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CIMR publications

2016 publications:

Adams PD et al. Outcome of the first wwPDB/CCDC/D3R ligand validation workshop. Structure 24, 502–508 (2016).

Adams PM et al. Assessment of the genetic variance of late-onset Alzheimer’s disease. Neurobiology of Aging 41, 200.e13-200.e20 (2016).

Adams TE & Huntington JA. Structural transitions during prothrombin activation: on the importance of fragment 2. Biochimie 122, 235–242 (2016).

Al-Lamki RS et al. Tumor necrosis factor receptor 2-signaling in CD133-expressing cells in renal clear cell carcinoma. Oncotarget doi:10.18632/oncotarget.8125 (2016).

Ammann S et al. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood 127, 997–1006 (2016).

Arden SD, Tumbarello DA, Butt T, Kendrick-Jones J & Buss F. Loss of cargo binding in the human myosin VI deafness mutant (R1166X) leads to increased actin filament binding. Biochem J. 473, 3307–3319 (2016).

Arno G et al. Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 99, 1305–1315 (2016).

Arno G et al. Reevaluation of the retinal dystrophy due to recessive alleles of RGR with the discovery of a cis-acting mutation in CDHR1. Invest. Ophthalmol. Vis. Sci. 57, 4806–4813 (2016).

Astuti GDN et al. Mutations in AGBL5, encoding α-tubulin deglutamylase, are associated with autosomal recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 57, 6180–6187 (2016).

Bacchelli C et al. Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency. J. Allergy Clin. Immunol. doi: 10.1016/j.jaci.2016.05.036 (2016).

Baglin TP, Langdown J, Frasson R & Huntington, JA. Discovery and characterization of an antibody directed against exosite I of thrombin. J. Thromb. Haemost. 14, 137–142 (2016).

Barbosa AD & Siniossoglou S. Spatial distribution of lipid droplets during starvation: implications for lipophagy. Commun. Integr. Biol. 9, e1183854 (2016).

Bento CF, Ashkenazi A, Jimenez-Sanchez M & Rubinsztein DC. The Parkinson’s disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway. Nature Commun. 7, 11803 (2016).

Bento CF, Renna M, Ghislat G, Puri C, Ashkenazi A, Vicinanza M & Rubinsztein DC. Mammalian autophagy: how does it work? Annu. Rev. Biochem. 85, 685–713 (2016).

Bianciardi L et al. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. J. Hum. Genet. 61, 95–101 (2016).

Boldt K, Van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TMT, Texier Y & Ueffing M. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Nature Comm. 7, doi:10.1038/ncomms11491 (2016).

Bright NA, Davis LJ & Luzio JP. Endolysosomes are the principal intracellular sites of acid hydrolase activity. Curr. Biol. 26, 2233–2245 (2016).

Burr SP et al. Mitochondrial protein lipoylation and the 2-oxoglutarate dehydrogenase complex controls HIF1α stability in aerobic conditions. Cell Met. (2016).

Burrows N, Cane G, Robson M, Gaude E, Howat WJ, Szlosarek PW & Maxwell PH. Hypoxia-induced nitric oxide production and tumour perfusion is inhibited by pegylated arginine deiminase (ADI-PEG20). Sci. Rep. 6, 22950 (2016).

Cetica V et al. Genetic predisposition to hemophagocytic lymphohistiocytosis: report on 500 patients from the Italian registry. J. Allergy Clin. Immunol. 137, 188–196.e4. doi:10.1016/j.jaci.2015.06.048 (2016).

Chang FC et al. Phenotypic insights into ADCY5-associated disease. Mov. Disord. 31, 1033–1040 (2016).

Connell JW, Allison R & Reid E. Quantitative gait analysis using a motorized treadmill system sensitively detects motor abnormalities in mice expressing ATPase defective spastin. PLoS One 11, e0152413 (2016).

Crisp N et al. Manifesto for a healthy and health-creating society. Lancet doi:10.1016/S0140-6736(16)31801-3 (2016).

Curtis D et al. Practical experience of the application of a weighted burden test to whole exome sequence data for obesity and schizophrenia. Ann. Hum. Genet. 80, 38–49 (2016).

De Franceschi N et al. Selective integrin endocytosis is driven by interactions between the integrin α-chain and AP2. Nature Struct. Mol. Biol. 23, 172–179 (2016).

de la Roche M, Asano Y & Griffiths GM. Origins of the cytolytic synapse. Nature Rev. Immunol. 16, 421–432 (2016).

Dennis MK et al. BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers. J. Cell Biol. 214, 293–308 (2016).

Dias C et al. BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription. Am. J. Hum. Genet. 99, 253–274 (2016).

Dickens JA et al. The endoplasmic reticulum remains functionally connected by vesicular transport after its fragmentation in cells expressing Z-α1-antitrypsin. FASEB J. 6, doi:10.1096/fj.201600430R (2016).

Dieckmann NMG, Frazer GL, Asano Y, Stinchcombe JC & Griffiths GM. The cytotoxic T lymphocyte immune synapse at a glance. J. Cell Sci. 129, 2881–2886 (2016).

Edgar JR, Manna PT, Nishimura S, Banting G & Robinson MS. Tetherin is an exosomal tether. eLife 5, e17180 (2016).

Felix J et al. Structural basis of GM-CSF and IL-2 sequestration by the viral decoy receptor GIF. Nature Comm. 7, 13228 (2016).

Fra A et al. Polymers of Z α1-antitrypsin are secreted in cell models of disease. Eur. Respir. J. 47, 1005–1009 (2016).

Frazier MN, Davies AK, Voehler M, Kendall AK, Borner GH, Chazin WJ & Jackson LP. Molecular basis for the interaction between AP4 β4 and its accessory protein, tepsin. Traffic 17, 400–415 (2016).

Füllgrabe J, Ghislat G, Cho DH & Rubinsztein DC. Transcriptional regulation of mammalian autophagy at a glance. J. Cell Sci. 129, 3059–3066 (2016).

Gale DP et al. A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen. Nephrol. Dial. Transplant. doi:10.1093/ndt/gfw051 (2016).

Ghani M, Sato C, Kakhki EG, Gibbs JR, Traynor B, St George-Hyslop P & Rogaeva E. Mutation analysis of the MS4A and TREM gene clusters in a case-control Alzheimer’s disease data set. Neurobiol Aging 42, 217. e7-217.e13 (2016).

Golder ZJ & Karet Frankl FE. Extra-renal locations of the a4 subunit of H(+)ATPase. BMC Cell Biol. 17, 27 doi:10.1186/s12860-016-0106-8 (2016).

Greenwood E et al. Temporal proteomic analysis of HIV infection reveals remodeling of the host phosphoproteome by lentiviral Vif variants. eLife 5, e18296 (2016).

Grice GL & Nathan JA. The recognition of ubiquitinated proteins by the proteasome. Cell. Mol. Life Sci. 73, 3497–3506 (2016).

Guerreiro R et al. Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson’s and Alzheimer’s diseases. Neurobiol Aging 38, 214.e7-214.10 (2016).

Ho Y, Li X, Jamison, S, Harding HP, McKinnon PJ, Ron D & Lin W. PERK activation promotes medulloblastoma tumorigenesis by attenuating premalignant granule cell precursor apoptosis. Am. J. Pathol. 186, 1939–1951 (2016).

Hoare M et al. NOTCH1 mediates a switch between two distinct secretomes during senescence. Nature Cell Biol. 18, 979–992 (2016).

Huang X et al. Molecular mechanism of Z α1-antitrypsin deficiency. J. Biol. Chem. 291, 15674–15686 (2016).

Hull S et al. Nonsyndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140. Invest. Ophthalmol. Vis. Sci. 57, 1053–1062 (2016).

In K, Zaini MA, Müller C, Warren AJ, von Lindern M & Calkhoven CF. Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs. Nuc. Acid Res. doi:10.1093/nar/gkw005 (2016).

Iotchkova V et al. Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. Nature Genet. 48, 1303–1312 (2016).

Itzcovich T, Xi Z, Martinetto H, Chrem-Méndez P, Russo MJ, de Ambrosi B & Surace EI. Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina. Neurobiol. Aging 40, 192.e13-192.e15 (2016).

Jimenez-Sanchez M, Licitra F, Underwood BR & Rubinsztein DC. Huntington’s disease: mechanisms of pathogenesis and therapeutic strategies. Cold Spring Harb. Perspect. Med. doi:10.1101/cshperspect.a024240 (2016).

Karniely S, Weekes MP, Antrobus R, Rorbach J, van Haute L, Umrania Y & Sinclair JH. Human cytomegalovirus infection upregulates the mitochondrial transcription and translation machineries. MBio. 7(2), e00029 doi:10.1128/mBio.00029-16 (2016).

Kelly BT, Graham SC & Owen DJ. Using selenomethionyl derivatives to assign sequence in low-resolution structures of the AP2 clathrin adaptor. Acta Crystallogr. D Struct. Biol. 72, 336–345 (2016).

Kendrick-Jones J & Buss F. Editorial overview: myosins in review. Traffic 17, 819–821 (2016).

Khan KN et al. Vitamin A deficiency due to bi-allelic mutation of RBP4: there’s more to it than meets the eye. Ophthalmic Genet. 1–2 doi:10.1080/13816810.2016.1227453 (2016).

Kim JH et al. De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. Am. J. Hum. Genet. 99, 711–719 (2016).

Klionsky DJ et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy 12, 1–222 (2016). Erratum in 12, 443 (2016).

Kruppa AJ, Kendrick-Jones J & Buss F. Myosins, actin and autophagy. Traffic 17, 878–890 (2016).

Larkin H, Costantino S, Seaman MN & Lavoie C. Calnuc function in endosomal sorting of lysosomal receptors. Traffic 17, 416–432 (2016).

Laskowski RA et al. Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain. Hum. Mol. Genet. 25, 927–935 (2016).

Li F et al. Dent disease in Chinese children and findings from heterozygous mothers: phenotypic heterogeneity, fetal growth, and 10 novel mutations. J. Pediatr. 174, 204–210. e1 (2016).

Liu C et al. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. Hum. Mol. Genet. 25, 1382–1391 (2016).

Long J et al. Plasma membrane profiling reveals upregulation of ABCA1 by infected macrophages leading to restriction of mycobacterial growth. Front. Microbiol. 7, 1086 (2016).

Ma L et al. Transient Fcho1/2-Eps15/R-AP-2 nanoclusters prime the AP-2 clathrin adaptor for cargo binding. Dev. Cell 37, 428–443 (2016).

Marciniak SJ et al. New concepts in alpha-1 antitrypsin deficiency disease mechanisms. Ann. Am. Thorac. Soc. 13 Suppl. 4, S289–S296 (2016).

Rintoul RC et al. MesobanK UK: an international mesothelioma bioresource. Thorax 71, 380–382 (2016).

Mardones P, Rubinsztein DC & Hetz C. Mystery solved: trehalose kickstarts autophagy by blocking glucose transport. Sci. Signal. 9, fs2. doi:10.1126/scisignal.aaf1937 (2016).

Martin CA et al. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev. 30, 2158–2172 (2016).

Martin JL, Read RJ & Wakatsuki S. Expanding beyond biological crystallography. Acta Crystallogr. D Struct. Biol. 72, 1 doi:10.1107/S2059798315023761 (2016).

Masters TA, Kendrick-Jones J & Buss F. Calcium gets myosin VI ready for work. Proc. Natl Acad. Sci. USA 113, 2325–2327 (2016).

Masters TA, Kendrick-Jones J & Buss F. Myosins: domain organisation, motor properties, physiological roles and cellular functions. Handb. Exp. Pharmacol. 10.1007/164_2016_29 (2016).

Matheson NJ, Greenwood EJ & Lehner PJ. Manipulation of immunometabolism by HIV – accessories to the crime? Curr. Opin. Virol. 19, 65–70 (2016).

Mauricio RPM, Jeffries CM, Svergun DI & Deane JE. The Shigella virulence factor IcsA relieves N-WASP autoinhibition by displacing the VCA domain. J. Biol. Chem. doi:10.1074/jbc.M116.758003 (2016).

Maxwell PH & Eckardt KU. HIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond. Nature Rev. Nephrol. 12, 157–168 (2016).

McDowell MA et al. Characterisation of Shigella Spa33 and Thermotoga FliM/N reveals a new model for C-ring assembly in T3SS. Mol. Microbiol. 99, 749–766 (2016).

McKerrell T et al. Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies. Blood 128, e1–e9 (2016).

Mencacci NE et al. De novo mutations in PDE10A cause childhood-onset chorea with bilateral striatal lesions. Am. J. Hum. Genet. 98, 763–771 (2016).

Middleton A et al. Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research. Eur. J. Hum. Genet. 24, 21–29 (2016).

Miyake M et al. Skeletal muscle-specific eukaryotic translation initiation factor 2α phosphorylation controls amino acid metabolism and fibroblast growth factor 21-mediated non-cell-autonomous energy metabolism. FASEB J. 30, 798–812 (2016).

Montecchiani C et al. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 139, 73–85 (2016).

Muona M et al. Biallelic variants in UBA5 link dysfunctional UFM1 ubiquitin-like modifier pathway to severe infantile-onset encephalopathy. Am. J. Hum. Genet. 99, 683–694 (2016).

Nahorski MS et al. CCDC88A mutations cause PEHO-like syndrome in humans and mouse. Brain 139, 1036–1044 (2016).

Nolan K, Kattamuri C, Rankin SA, Read RJ, Zorn AM & Thompson TB. Structure of gremlin-2 in complex with GDF5 gives insight into DAN-family-mediated BMP antagonism. Cell Rep. 16, 2077–2086 (2016).

Pavel M & Rubinsztein DC. Mammalian autophagy and the plasma membrane. FEBS J. doi:10.1111/febs.13931 (2016).

Pavel M et al. CCT complex restricts neuropathogenic protein aggregation via autophagy. Nature Comm. 7, 13821 doi:10.1038/ncomms13821 (2016).

Polderdijk SGI, Adams TE, Ivanciu L, Camire RM, Baglin TP & Huntington JA. Design and characterization of an APC-specific serpin for the treatment of haemophilia. Blood doi:10.1182/blood-2016-05-718635 (2016).

Preissler S, Rato C, Perera LA, Saudek V & Ron D. FICD acts bifunctionally to AMPylate and de-AMPylate the endoplasmic reticulum chaperone BiP. Nature Struct. Mol. Biol. doi:10.1038/nsmb.3337 (2016).

Rapiteanu R, Davis LJ, Williamson JC, Timms RT, Luzio PJ & Lehner PJ. A genetic screen identifies a critical role for the WDR81- WDR91 complex in the trafficking and degradation of tetherin. Traffic 17, 940–958 (2016).

Read RJ & McCoy AJ. A log-likelihood-gain intensity target for crystallographic phasing that accounts for experimental error. Acta Crystallogr. D Struct. Biol. 72, 375–387 (2016).

Reijnders MR et al. De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations. Am. J. Hum. Genet. 98, 373–381 (2016).

Renna M & Rubinsztein DC. Macroautophagy without LC3 conjugation? Cell Res. doi:10.1038/cr.2016.143 (2016).

Riazuddin S et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Mol. Psychiatry doi: 10.1038/mp.2016.109 (2016).

Robinson CM & Karet Frankl FE. Magnesium lactate in the treatment of Gitelman syndrome: patient-reported outcomes. Nephrol. Dial. Transplant. doi:10.1093/ndt/gfw019 (2016).

Rowe ER et al. Conserved amphipathic helices mediate lipid droplet targeting of perilipins 1-3. J. Biol. Chem. 291, 6664–6678 (2016).

Rubinsztein DC & Orr HT. Diminishing return for mechanistic therapeutics with neurodegenerative disease duration? There may be a point in the course of a neurodegenerative condition where therapeutics targeting disease-causing mechanisms are futile. Bioessays 38, 977–980 (2016).

Rubinsztein DC. Tau toxicity feeds forward in frontotemporal dementia. Nature Med. 22, 24–25 (2016).

Scholz CC et al. FIH regulates cellular metabolism through hydroxylation of the deubiquitinase OTUB1. PLoS Biol. 14, e1002347 (2016).

Schuurs-Hoeijmakers JH et al. Clinical delineation of the PACS1-related syndrome – report on 19 patients. Am. J. Med. Genet. A 170, 670–675 (2016).

Sciacovelli M et al. Fumarate is an epigenetic modifier that elicits epithelial-tomesenchymal transition. Nature 537, 544–547 (2016); correction in 540, 150 (2016).

Sekine Y, Zyryanova A, Crespillo-Casado A, Amin-Wetzel N, Harding HP & Ron D. Paradoxical sensitivity to an integrated stress response blocking mutation in vanishing white matter cells. PLoS One 11, e0166278 (2016).

Shaikh SS et al. A comprehensive functional analysis of NTRK1 missense mutations causing hereditary sensory and autonomic neuropathy type IV (HSAN IV). Hum. Mutat. doi: 10.1002/humu.23123 (2016).

Sifrim A et al. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genet. 48, 1060–1065 (2016).

Singh T et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nature Neurosci. 19, 571–577 (2016).

Smogavec M et al. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. J. Med. Genet. doi:10.1136/jmedgenet-2016-103880 (2016).

Sorrell SL, Golder ZJ, Johnstone DB & Karet Frankl FE. Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis. Kidney Int. 89, 105–112 (2016).

Spratley SJ & Deane JE. New therapeutic approaches for Krabbe disease: the potential of pharmacological chaperones. J. Neurosci. Res. 94, 1203–1219 (2016).

Spratley SJ, Hill CH, Viuff AH, Edgar JR, Skjødt K & Deane JE. Molecular mechanisms of disease pathogenesis differ in Krabbe disease variants. Traffic 17, 908–922 (2016).

Stegen S et al. HIF-1α promotes glutamine-mediated redox homeostasis and glycogen-dependent bioenergetics to support postimplantation bone cell survival. Cell Metab. 23, 265–279 (2016).

Streeter A, Menzies FM & Rubinsztein DC. LC3-II tagging and western blotting for monitoring autophagic activity in mammalian cells. Methods Mol. Biol. 1303, 161–170 (2016).

Stritt S et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood 127, 2903–2914 (2016).

Sun J et al. A method for analyzing multiple continuous phenotypes in rare variant association studies allowing for flexible correlations in variant effects. Eur. J. Hum. Genet. 24, 1344–1351 (2016).

Takatani R et al. Analysis of multiple families with single individuals affected by pseudohypoparathyroidism type Ib (PHP1B) reveals only one novel maternally inherited GNAS deletion. J. Bone Miner. Res. 31, 796–805 (2016).

Temprano A et al. Redundant roles of the phosphatidate phosphatase family in triacylglycerol synthesis in human adipocytes. Diabetologia 59, 1985–1994 (2016).

Timms RT et al. Genetic dissection of mammalian ERAD through comparative haploid and CRISPR forward genetic screens. Nature Comm. 7, 11786 (2016).

Timms RT, Tchasovnikarova IA & Lehner PJ. Position-effect variegation revisited: HUSHing up heterochromatin in human cells. Bioessays 38, 333–343 (2016).

Timms RT, Tchasovnikarova IA, Antrobus R, Dougan G & Lehner PJ. ATF7IP-mediated stabilization of the histone methyltransferase SETDB1 is essential for heterochromatin formation by the HUSH complex. Cell Rep. 17, 653–659 (2016).

Traylor M et al. Shared genetic contribution to ischaemic stroke and Alzheimer’s disease. Ann. Neurol. doi:10.1002/ana.24621 (2016).

Turnball ML et al. Role of the B allele of influenza A virus segment 8 in setting mammalian host range and pathogenicity. J. Virol. 90, 9263–9284 (2016).

Turro E et al. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies. Sci. Transl. Med. 8, 328ra30 (2016).

Ulbrich L et al. Autism-associated R451C mutation in neuroligin3 leads to activation of the unfolded protein response in a PC12 Tet-On inducible system. Biochem. J. 473, 423–434 (2016).

Vicinanza M & Rubinsztein DC. Mirror image phosphoinositides regulate autophagy. Mol. Cell Oncol. 3, e1019974 (2016).

Weiss MS et al. A critical examination of the recently reported crystal structures of the human SMN protein. Hum. Mol. Genet. doi:10.1093/hmg/ddw298 (2016).

White RR et al. Ubiquitin-dependent modification of skeletal muscle by the parasitic nematode, Trichinella spiralis. PLoS Pathog. 12, e1005977 (2016).

Woods CG. Autonomic neurology. Eur. J. Hum. Genet. 24, 152 (2016).

Wu X et al. Autophagy regulates Notch degradation and modulates stem cell development and neurogenesis. Nature Commun. 7, 10533 (2016).



2015 publications:

Abdulkarim B et al. A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature, and microcephaly. Diabetes 64, 3951–3962 (2015).

Adams TE & Huntington JA. Structural transitions during prothrombin activation: on the importance of fragment 2. Biochimie doi 10.1016/j.biochi.2015.09.013 (2015)

Alberici F, Smith RM, Jones RB, Roberts DM, Willcocks LC, Chaudhry A, Smith KGC & Jayne DRW. Long-term follow-up of patients who received repeat-dose rituximab as maintenance therapy for ANCA-associated vasculitis. Rheumatology 54, 1153–1160 (2015).

Avezov E, Konno T, Zyryanova A, Chen W, Laine R, Crespillo-Casado A & Ron D. Retarded PDI diffusion and a reductive shift in poise of the calcium depleted endoplasmic reticulum. BMC Biol. 13, 2 (2015).

Ba-Abbad R, Arno G, Carss K, Stirrups K, Penkett CJ, Moore AT, Michaelides M, Raymond FL, Webster AR & Holder GE. Mutations in CACNA2D4 cause distinctive retinal dysfunction in humans. Ophthalmology doi:10.1016/j.ophtha.2015.09.045 (2015).

Baglin TP, Langdown J, Frasson R & Huntington JA. Discovery and characterization of an antibody directed against exosite I of thrombin. J. Thromb. Haemost. doi:10.1111/jth.13171 (2015).

Baker K, Astle DE, Scerif G, Barnes J, Smith J, Moffat G & Raymond FL. Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations. Ann. Clin. Transl. Neurol. 2, 559–569 (2015).

Baker K, Gordon SL, Grozeva D, van Kogelenberg M, Roberts NY, Pike M & Raymond FL. Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling. J. Clin. Invest. 125, 1670–1678 (2015).

Baker K, Scerif G, Astle DE, Fletcher PC & Raymond FL. Psychopathology and cognitive performance in individuals with membrane-associated guanylate kinase mutations: a functional network phenotyping study. J. Neurodev. Disord. 7, 8 (2015).

Barbosa AD, Savage DB & Siniossoglou S. Lipid droplet-organelle interactions: emerging roles in lipid metabolism. Curr. Opin. Cell Biol. 35, 91–97 (2015).

Barbosa AD, Sembongi H, Su WM, Abreu S, Reggiori F, Carman GM & Siniossoglou S. Lipid partitioning at the nuclear envelope controls membrane biogenesis. Mol. Biol. Cell 26, 3641–3657 (2015).

Behr ER et al. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. Cardiovasc Res. 106, 520–529 (2015).

Bell CJ et al. Sustained in vivo signaling by long-lived IL-2 induces prolonged increases of regulatory T cells. J. Autoimmun. 56, 66–80 (2015).

Berry GJ, Frielle C, Luu T, Salzberg AC, Rainbow DB, Wicker LS & Waldner H. Genome-wide transcriptional analyses of islet-specific CD4+ T cells identify Idd9 genes controlling diabetogenic T cell function. J. Immunol. 194, 2654–2663 (2015).

Bianciardi L et al. MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability. J. Hum. Genet. doi:10.1038/jhg.2015.118 (2015).

Bowes J et al. Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis. Nature Comm. 6, 6046 (2015).

Bright NA, Wartosch L & Luzio JP. Lysosome fusion in cultured mammalian cells. Meth. Cell Biol. 126, 101–118 (2015).

Bunkóczi G, McCoy AJ, Echols N, Grosse-Kunstleve RW, Adams PD, Holton JM, Read RJ & Terwilliger TC. Macromolecular X-ray structure determination using weak, single-wavelength anomalous data. Nature Meth. 12, 127–130 (2015).

Bunkóczi G, Wallner B & Read RJ. Local error estimates dramatically improve the utility of homology models for solving crystal structures by molecular replacement. Structure 23, 397–406 (2015).

Button RW, Luo S & Rubinsztein DC. Autophagic activity in neuronal cell death. Neuroscience Bulletin 31, 382–394 (2015).

Cano F, Rapiteanu R, Sebastiaan Winkler G & Lehner PJ. A non-proteolytic role for ubiquitin in deadenylation of MHC-I mRNA by the RNA-binding E3-ligase MEX-3C. Nature Comm. 6, 8670 (2015).

Cetica V et al. Homozygous deletion in STXBP2 causative of familial hemophagocytic lymphohistiocytosis type 5 (FHL-5). Pediatric Blood & Cancer 62, S4 (2015).

Cetica V et al. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. J. Allergy Clin. Immunol. doi:10.1016/j.jaci.2015.06.048 (2015).

Chambers JE, Dalton LE, Clarke HJ, Malzer E, Dominicus CS, Patel V, Moorhead G, Ron D & Marciniak SJ. Actin dynamics tune the integrated stress response by regulating eukaryotic initiation factor 2α dephosphorylation. Elife 4 doi: 10.7554/eLife.04872 (2015).

Chambers JE, Dalton LE, Subramanian DN, Gooptu B, Balan A, Park SM & Marciniak SJ. Spontaneous pneumothorax can be associated with TGFBR2 mutation. Eur. Respir. J. doi:10.1183/13993003.00952-2015 (2015).

Chaudhry A et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clinical Genet. 88, 224–233 (2015).

Chen R, Rato C, Yan Y, Crespillo-Casado A, Clarke HJ, Harding HP, Marciniak SJ, Read RJ & Ron D. G-actin provides substrate-specificity to eukaryotic initiation factor 2α holophosphatases. Elife 4, doi: 10.7554/eLife.04871. (2015).

Cohen S, Nathan JA & Goldberg AL. Muscle wasting in disease: molecular mechanisms and promising therapies. Nature Rev. Drug Disc. 14, 58–74 (2015).

Cooper NJ, Shtir CJ, Smyth DJ, Guo H, Swafford AD, Zanda M & Todd JA. Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Hum. Mol. Genet. 24, 1774–1790 (2015).

Dieckmann NMG, Hackmann Y, Aricò M & Griffiths GM. Munc18-2 is required for syntaxin 11 Localization on the plasma membrane in cytotoxic T-lymphocytes. Traffic doi:10.1111/tra.12337 (2015).

Dopico XC et al. Widespread seasonal gene expression reveals annual differences in human immunity and physiology. Nature Comm. 6, 7000 (2015).

Dunphy SE, Guinan KJ, Chorcora CN, Jayaraman J, Traherne JA, Trowsdale J, Pende D, Middleton D & Gardiner CM. 2DL1, 2DL2 and 2DL3 all contribute to KIR phenotype variability on human NK cells. Genes Immunity 16, 301–310 (2015).

Egan ES, Jiang RH, Moechtar MA, Barteneva NS, Weekes MP, Nobre LV & Duraisingh MT. Malaria. A forward genetic screen identifies erythrocyte CD55 as essential for Plasmodium falciparum invasion. Science 348, 711–714 (2015).

Ejlerskov P et al. Lack of neuronal IFN-β-IFNAR causes Lewy Body- and Parkinson's Disease-like dementia. Cell 163, 324–339 (2015).

Ferreira RC et al. IL-21 production by CD4+ effector T cells and frequency of circulating follicular helper T cells are increased in type 1 diabetes patients. Diabetologia 58, 781–790 (2015).

Fitzgerald TW et al. Large-scale discovery of novel genetic causes of developmental disorders. Nature 519, 223–228 (2015).

Fletcher AJ, Christensen DE, Nelson C, Tan CP, Schaller T, Lehner PJ, & Towers GJ. TRIM5α requires Ube2W to anchor Lys63-linked ubiquitin chains and restrict reverse transcription. EMBO J. 34, 2078–2095 (2015).

Flint SM, McKinney EF & Smith KG. Emerging concepts in the pathogenesis of antineutrophil cytoplasmic antibody-associated vasculitis. Curr. Opin Rheumatol. 27, 197–203 (2015).

Flint SM, McKinney EF, Lyons PA & Smith KG. The contribution of transcriptomics to biomarker development in systemic vasculitis and SLE. Curr. Pharm. Des. 21, 2225–2235 (2015).

Floto RA & Haworth CS. The growing threat of nontuberculous mycobacteria in CF. J. Cyst. Fibros. 14, 1–2 (2015).

Fortune MD, Guo H, Burren O, Schofield E, Walker NM, Ban M, Sawcer SJ, Bowes J, Worthington J, Barton A, Eyre S, Todd JA & Wallace C. Statistical colocalization of genetic risk variants for related autoimmune diseases in the context of common controls. Nature Genet. 47, 839–846 (2015). Corrigendum: 47, 962 (2015).

Frake RA, Ricketts T, Menzies FM & Rubinsztein DC. Autophagy and neurodegeneration. J. Clin. Invest. 125, 65–74 (2015).

Fraser, H. I., Howlett, S., Clark, J., Rainbow, D. B., Stanford, S. M., Wu, D. J., Wicker, L. S. Ptpn22 and Cd2 Variations Are Associated with Altered Protein Expression and Susceptibility to Type 1 Diabetes in Nonobese Diabetic Mice.. J Immunol, 195, 4841-4852 (2015).

Galluzzi L et al. Essential versus accessory aspects of cell death: Recommendations of the NCCD 2015. Cell Death Diff. 22, 58–73 (2015).

Galluzzi L et al. Autophagy in malignant transformation and cancer progression. EMBO J. 34, 856–880 (2015).

Ghani M et al. Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol Aging 36, 545.e9-545.14 (2015).

Grice GL, Lobb IT, Weekes MP, Gygi SP, Antrobus R & Nathan JA. The Proteasome Distinguishes between Heterotypic and Homotypic Lysine-11-Linked Polyubiquitin Chains. Cell Rep. 12, 545–553 (2015).

Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M & Raymond FL. Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. Hum. Mutat. 36, 1197–1204 (2015).

Guo H, Fortune MD, Burren OS, Schofield E, Todd JA & Wallace C. Integration of disease association and eQTL data using a Bayesian colocalisation approach highlights six candidate causal genes in immune-mediated diseases. Hum. Mol. Genet. 24, 3305–3313 (2015).

Halliday M et al. Partial restoration of protein synthesis rates by the small molecule ISRIB prevents neurodegeneration without pancreatic toxicity. Cell Death Dis. 6, e1672 (2015).

Hensiek A, Kirker S & Reid E. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. J. Neurol. 262, 1601–1612 (2015).

Hermann C, Trowsdale J & Boyle LH. TAPBPR: a new player in the MHC class I presentation pathway. Tissue Antigens 85, 155–166 (2015).

Hermann C, van Hateren A, Trautwein N, Neerincx A, Duriez PJ, Stevanović S, Trowsdale J, Deane JE, Elliott T & Boyle LH. TAPBPR alters MHC class I peptide presentation by functioning as a peptide exchange catalyst. Elife 4 doi:10.7554/eLife.09617 (2015).

Hexter A et al. Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients. J. Med. Genet. 52, 699–705 (2015).

Heywood J et al. Effective recruitment of participants to a phase I study using the internet and publicity releases through charities and patient organisations: analysis of the adaptive study of IL-2 dose on regulatory T cells in type 1 diabetes (DILT1D). Trials 16, 583 (2015).

Hill CH, Read RJ & Deane JE. Structure of human saposin A at lysosomal pH. Acta Crystallogr. F Struct. Biol. Commun. 71, 895–900 (2015).

Hill CH, Viuff AH, Spratley SJ, Salamone S, Christensen SH, Read RJ & Deane JE. Azasugar inhibitors as pharmacological chaperones for Krabbe disease. Chem. Sci. 6, 3075–3086 (2015).

Hirst J, Edgar JR, Borner GH, Li S, Sahlender DA, Antrobus R & Robinson MS. Contributions of epsinR and gadkin to clathrin-mediated intracellular trafficking. Mol. Biol. Cell 26, 3085–3103 (2015).

Hirst J et al. Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. Hum. Mol. Genet. 24, 4984–4996 (2015).

Hsu JL, van den Boomen DJ, Tomasec P, Weekes MP, Antrobus R, Stanton RJ & Lehner PJ. Plasma membrane profiling defines an expanded class of cell surface proteins selectively targeted for degradation by HCMV US2 in cooperation with UL141. PLoS Pathog. 11, e1004811 (2015).

Hu X et al. Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk. Nature Genet. 47, 898–905 (2015).

Huang J et al. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nature Comm. 6, 8111 (2015).

Hydes TJ, Moesker B, Traherne JA, Ashraf S, Alexander GJ, Dimitrov BD, Woelk CH, Trowsdale J & Khakoo SI. The interaction of genetic determinants in the outcome of HCV infection: evidence for discrete immunological pathways. Tissue Antigens 86, 267–275 (2015).

Jackson RN, McCoy AJ, Terwilliger TC, Read RJ & Wiedenheft B. X-ray structure determination using low-resolution electron microscopy maps for molecular replacement. Nature Protoc. 10, 1275–1284 (2015).

Jimenez-Sanchez M & Rubinsztein DC. Huntington's disease — the sting in the tail. EMBO J. 34, 2215–2216 (2015).

Jimenez-Sanchez M, Lam W, Hannus M, Sönnichsen B, Imarisio S, Fleming A & Rubinsztein DC. SiRNA screen identifies QPCT as a druggable target for Huntington's disease. Nature Chemical Biol. 11, 347–354 (2015).

Jones L et al. Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimer's and Dementia 11, 658–671 (2015).

Kaiser VB et al. Homozygous loss-of-function variants in European cosmopolitan and isolate populations. Hum. Mol. Genet. 24, 5464–5474 (2015).

Konno T, Pinho Melo E, Lopes C, Mehmeti I, Lenzen S, Ron D & Avezov E. ERO1-independent production of H2O2 within the endoplasmic reticulum fuels Prdx4-mediated oxidative protein folding. J. Cell Biol. 211, 253–259 (2015).

Kourti M, Ikonomou G, Giakoumakis NN, Rapsomaniki MA, Landegren U, Siniossoglou S & Mylonis I. CK1δ restrains lipin-1 induction, lipid droplet formation and cell proliferation under hypoxia by reducing HIF-1α/ARNT complex formation. Cellular Signalling 27, 1129–1140 (2015).

Levine AP, Connor TM, Oygar DD, Neild GH, Segal AW, Maxwell PH & Gale DP. Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies. BMC Genomics 16, 1360 (2015).

Lewin A, Saadi H, Peters JE, Moreno-Moral A, Lee JC, Smith KG & Richardson S. MT-HESS: an efficient Bayesian approach for simultaneous association detection in OMICS datasets, with application to eQTL mapping in multiple tissues. Bioinformatics doi:10.1093/bioinformatics/btv568 (2015).

Lewis MJ, Vyse S, Shields AM, Boeltz S, Gordon PA, Spector TD, Lehner PJ, Walczak H & Vyse TJ. UBE2L3 polymorphism amplifies NF-κB activation and promotes plasma cell development, linking linear ubiquitination to multiple autoimmune diseases. Am. J. Hum. Genet. 96, 221–234 (2015).

Liley J & Wallace C. A pleiotropy-informed Bayesian false discovery rate adapted to a shared control design finds new disease associations from GWAS summary statistics. PLoS Genet. 11, e1004926 (2015).

Lin F, Ghislat G, Luo S, Renna M, Siddiqi F & Rubinsztein DC. XIAP and cIAP1 amplifications induce Beclin 1-dependent autophagy through NFκB activation. Hum. Mol. Genet. 24, 2899–2913 (2015).

Lourenco S, Teixeira VH, Kalber T, Jose RJ, Floto RA & Janes SM. Macrophage migration inhibitory factor-CXCR4 is the dominant chemotactic axis in human mesenchymal stem cell recruitment to tumors. J. Immunol. 194, 3463-3474 (2015).

Mallett A et al. The T616C tRNA(Phe) mutation causes mitochondrially inherited tubulointerstitial kidney disease. Nephrology 20, 41 (2015).

Matheson NJ, Sumner J, Wals K, Rapiteanu R, Weekes MP, Vigan R & Lehner PJ. Cell surface proteomic map of HIV infection reveals antagonism of amino acid metabolism by Vpu and Nef. Cell Host Microbe 18, 409–423 (2015).

McDowell MA et al. Characterisation of Shigella Spa33 and Thermotoga FliM/N reveals a new model for C-ring assembly in T3SS. Mol. Microbiol. doi:10.1111/mmi.13267 (2015).

McKinney EF, Lee JC, Jayne DR, Lyons PA & Smith KG. T-cell exhaustion, co-stimulation and clinical outcome in autoimmunity and infection. Nature 523, 612–616 (2015).

Menzies FM, Fleming A & Rubinsztein DC. Compromised autophagy and neurodegenerative diseases. Nature Rev. Neurosci. 16, 345–357 (2015).

Menzies FM, Garcia-Arencibia M, Imarisio S, O'Sullivan NC, Ricketts T, Kent BA & Rubinsztein DC. Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity. Cell Death Diff. 22, 433–444 (2015).

Miller SE et al. CALM regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature. Dev. Cell 33, 163–175 (2015).

Moreau K, Ghislat G, Hochfeld W, Renna M, Zavodszky E, Runwal G & Rubinsztein DC. Transcriptional regulation of Annexin A2 promotes starvation-induced autophagy. Nature Commun. 6, 8045 (2015).

Moreau K, Puri C & Rubinsztein DC. Methods to analyze SNARE-dependent vesicular fusion events that regulate autophagosome biogenesis. Methods 75, 19–24 (2015).

Moreau P, Moreau K, Segarra A, Tourbiez D, Travers MA, Rubinsztein DC & Renault T. Autophagy plays an important role in protecting Pacific oysters from OsHV-1 and Vibrio aestuarianus infections. Autophagy 11, 516–526 (2015).

Moriconi C et al. Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum. FEBS J. doi:10.1111/febs.13517 (2015).

Mukadam AS & Seaman MN. Retromer-mediated endosomal protein sorting: the role of unstructured domains. FEBS Lett. 589, 2620–2626 (2015).

Murakami T et al. ALS/FTD mutation-induced phase transition of FUS liquid droplets and reversible hydrogels into irreversible hydrogels impairs RNP granule function. Neuron 88, 678–690 (2015).

Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GH, Chen YC & Woods CG. A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. Brain 138, 2147–2160 (2015).

Nakimuli A et al. A KIR B centromeric region present in Africans but not Europeans protects pregnant women from pre-eclampsia. Proc. Natl Acad. Sci. USA 112, 845–850 (2015).

Naville M et al. Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome. Nature Commun. 6, 6904 (2015).

Nikolić MZ, Lok LS, Mattishent K, Barth S, Yung B, Cummings NM & Marciniak SJ. Noninterventional statistical comparison of BTS and CHEST guidelines for size and severity in primary pneumothorax. Eur. Respir. J. 45, 1731–1734 (2015).

Onengut-Gumuscu S et al. Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. Nature Genet. 47, 381–386 (2015).

Ordóñez A, Pérez J, Tan L, Dickens JA, Motamedi-Shad N, Irving JA, Haq I, Ekeowa U, Marciniak SJ, Miranda E & Lomas DA. A single-chain variable fragment intrabody prevents intracellular polymerization of Z α1-antitrypsin while allowing its antiproteinase activity. FASEB J. 29, 2667–2678 (2015).

Panagea T, Pincus DH, Grogono D, Jones M, Bryant J, Parkhill J, Floto RA & Gilligan P. Mycobacterium abscessus complex identification with matrix-assisted laser desorption ionization-time of flight mass spectrometry. J. Clin. Microbiol. 53, 2355–2358 (2015).

Park SJ et al. Heterogeneous nuclear ribonucleoprotein A1 post-transcriptionally regulates Drp1 expression in neuroblastoma cells. Biochim. Biophys. Acta 1849, 1423–1431 (2015).

Parkins MD & Floto RA. Emerging bacterial pathogens and changing concepts of bacterial pathogenesis in cystic fibrosis. J. Cyst. Fibros. 14, 293–304 (2015).

Parkinson MD, Piper SC, Bright NA, Evans JL, Boname JM, Bowers K, Lehner PJ & Luzio JP. A non-canonical ESCRT pathway, including histidine domain phosphotyrosine phosphatase (HD-PTP), is used for down-regulation of virally ubiquitinated MHC class I. Biochem J. 471, 79–88 (2015).

Radjabova V et al. TARM1 is a novel leukocyte receptor complex-encoded ITAM receptor that costimulates proinflammatory cytokine secretion by macrophages and neutrophils. J. Immunol. 195, 3149–3159 (2015).

Rainbow DB et al. Epigenetic analysis of regulatory T cells using multiplex bisulfite sequencing. Eur. J. Immunol. doi:10.1002/eji.201545646 (2015).

Rhodes DA, Chen HC, Price AJ, Keeble AH, Davey MS, James LC, Eberl M & Trowsdale J. Activation of human γδ T cells by cytosolic interactions of BTN3A1 with soluble phosphoantigens and the cytoskeletal adaptor periplakin. J. Immunol. 194, 2390–2398 (2015).

Rintoul RC et al. MesobanK UK: an international mesothelioma bioresource. Thorax doi:10.1136/thoraxjnl-2015-207496 (2015).

Ritter AT, Asano Y, Stinchcombe JC, Dieckmann NM, Chen BC, Gawden-Bone C & Griffiths GM. Actin depletion initiates events leading to granule secretion at the immunological synapse. Immunity 42, 864–876 (2015).

Robinson MS. Forty years of clathrin-coated vesicles. Traffic doi:10.1111/tra.12335 (2015).

Rovelet-Lecrux A et al. De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. Mol. Psychiatry 20, 1046–1056 (2015).

Rubinsztein DC. Cell biology: receptors for selective recycling. Nature 522, 291–292 (2015).

Rubinsztein DC, Bento CF & Deretic V. Therapeutic targeting of autophagy in neurodegenerative and infectious diseases. J. Exp. Med. 212, 979–990 (2015).

Sali A et al. Outcome of the first wwPDB hybrid/integrative methods task force workshop. Structure 23, 1156–1167 (2015).

Schiebler M et al. Functional drug screening reveals anticonvulsants as enhancers of mTOR-independent autophagic killing of Mycobacterium tuberculosis through inositol depletion. EMBO Mol. Med. 7, 127–139 (2015).

Schmidts M et al. TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nature Comm. 6, 7074 (2015).

Sekine Y, Zyryanova A, Crespillo-Casado A, Fischer PM, Harding HP & Ron D. Stress responses. Mutations in a translation initiation factor identify the target of a memory-enhancing compound. Science 348, 1027–1030 (2015).

Shaheen R et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum. Mol. Genet. 24, 1410–1419 (2015).

Sliwiak J, Dauter Z, Kowiel M, McCoy AJ, Read RJ & Jaskolski M. ANS complex of St John's wort PR-10 protein with 28 copies in the asymmetric unit: a fiendish combination of pseudosymmetry with tetartohedral twinning. Acta Crystallogr. D Biol. Crystallogr. 71, 829–843 (2015).

Sorrell SL, Golder ZJ, Johnstone DB & Karet Frankl FE. Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis. Kidney Int. doi:10.1038/ki.2015.277 (2015).

Stewart AP, Sandford RN, Karet Frankl FE & Edwardson JM. Pathogenic uromodulin mutations result in premature intracellular polymerization. FEBS Lett. 589, 89–93 (2015).

Stinchcombe JC, Randzavola L, Angus KL, Mantell JM, Verkade P & Griffiths GM. Mother Centriole Distal Appendages Mediate Centrosome Docking at the Immunological Synapse and Reveal Mechanistic Parallels with Ciliogenesis. Current Biol. 25, 3239–3244 (2015).

Su Y, Al-Lamki RS, Blake-Palmer KG, Best A, Golder ZJ, Zhou A & Karet Frankl FE. Physical and functional links between anion exchanger-1 and sodium pump. J. Am. Soc. Nephrol. 26, 400–409 (2015).

Takatani R et al. Analysis of multiple families with single individuals affected by Pseudohypoparathyroidism Type Ib (PHP1B) reveals only one novel maternally inherited GNAS deletion. J. Bone Miner. Res. doi:10.1002/jbmr.2731 (2015).

Tan L et al. Characterising the association of latency with α(1)-antitrypsin polymerisation using a novel monoclonal antibody. Int. J. Biochem. Cell. Biol. 58, 81–91 (2015).

Tarlinton DM & Smith KG. How many memories does it take to make an SLE flare? Nature Immunol. 16, 685–687 (2015).

Taylor PN et al. Whole-genome sequence-based analysis of thyroid function. Nature Commun. 6, 5681 (2015).

Tchasovnikarova IA, Timms RT, Matheson NJ, Wals K, Antrobus R, Göttgens B & Lehner PJ. Gene silencing. Epigenetic silencing by the HUSH complex mediates position-effect variegation in human cells. Science 348, 1481–1485 (2015).

Teo AE et al. Pregnancy, primary aldosteronism, and adrenal CTNNB1 mutations. N. Engl. J. Med. 373, 1429–1436 (2015).

Traherne JA, Jiang W, Valdes AM, Hollenbach JA, Jayaraman J, Lane JA, Johnson C, Trowsdale J & Noble JA. KIR haplotypes are associated with late-onset type 1 diabetes in European-American families. Genes Immun. doi:10.1038/gene.2015.44 (2015).

Trowsdale J, Jones DC, Barrow AD & Traherne JA. Surveillance of cell and tissue perturbation by receptors in the LRC. Immunol. Rev. 267, 117–136 (2015).

Tumbarello DA, Manna PT, Allen M, Bycroft M, Arden SD, Kendrick-Jones J & Buss F. The autophagy receptor TAX1BP1 and the molecular motor myosin VI are required for clearance of Salmonella Typhimurium by autophagy. PLoS Pathog. 11, e1005174 (2015).

van den Boomen DJ & Lehner PJ. Identifying the ERAD ubiquitin E3 ligases for viral and cellular targeting of MHC class I. Mol. Immunol. 68, 106–111 (2015).

van 't Wout EF, van Schadewijk A, van Boxtel R, Dalton LE, Clarke HJ, Tommassen J, Marciniak SJ & Hiemstra PS. Virulence factors of Pseudomonas aeruginosa induce both the unfolded protein and integrated stress responses in airway epithelial cells. PLoS Pathog. 11, e1004946 (2015).

van't Wout EF, van Schadewijk A, Lomas DA, Stolk J, Marciniak SJ & Hiemstra PS. Function of monocytes and monocyte-derived macrophages in α1-antitrypsin deficiency. Eur. Respir. J. 45, 365–376 (2015).

Vicinanza M, Korolchuk VI, Ashkenazi A, Puri C, Menzies FM, Clarke JH & Rubinsztein DC. PI(5)P regulates autophagosome biogenesis. Mol. Cell 57, 219–234 (2015).

Volmer R & Ron D. Lipid-dependent regulation of the unfolded protein response. Curr. Opin Cell Biol. 33, 67-73 (2015).

Vukcevic D et al. Imputation of KIR types from SNP variation data. Am. J. Hum. Genet. 97, 593–607 (2015).

Vulto-van Silfhout AT et al. Variants in CUL4B are associated with cerebral malformations. Hum. Mutat. 36, 106–117 (2015).

Wallace C et al. Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping. PLoS Genet. 11, e1005272 (2015).

Walter K et al. The UK10K project identifies rare variants in health and disease. Nature 526, 82–89 (2015).

Wartosch L, Bright NA & Luzio JP. Quick Guide: lysosomes. Curr. Biol. 25, R315–R316 (2015).

Wartosch L, Günesdogan U, Graham SC & Luzio JP. Recruitment of VPS33A to HOPS by VPS16 is required for lysosome fusion with endosomes and autophagosomes. Traffic 16, 727–742 (2015).

Weis F, Giudice E, Churcher M, Jin L, Hilcenko C, Wong CC, Traynor D, Kay RR & Warren AJ. Mechanism of eIF6 release from the nascent 60S ribosomal subunit. Nature Struct. Mol. Biol. doi:10.1038/nsmb.3112 (2015).

Wheway G et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nature Cell Biol. 17, 1074–1087 (2015).

Wilkinson GWG, Davison AJ, Tomasec P, Fielding CA, Aicheler R, Murrell I, Seirafian S, Wang ECY, Weekes M, Lehner PJ, Wilkie GS & Stanton RJ. Human cytomegalovirus: taking the strain. Med. Micro. Immunol. 204, 273–284 (2015).

Woods CG, Babiker MO, Horrocks I, Tolmie J & Kurth I. The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. Eur. J. Hum. Genet. 23, 561–563 (2015).

Yang JH et al. Natural variation in interleukin-2 sensitivity influences regulatory T-Cell frequency and function in individuals with long-standing type 1 diabetes. Diabetes 64, 3891–3902 (2015).

Zhang Y, Persson S, Hirst J, Robinson MS, van Damme D & Sánchez-Rodríguez C. Change your Tplate, change your fate: plant CME and beyond. Trends Plant Sci. 20, 41-48 (2015).

2014 papers:

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, Low J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, Fitzpatrick DF, UK10KξConsortium, Wilson DI, Mital S, Hurles ME. Rare variants in NR2F2 cause congenital heart defects in humans. Am. J. Hum. Genet. 94, 574-585 (2014).

Ammann JU, Trowsdale J. Development and use of IgM/J-chain fusion proteins for characterization of immunoglobulin superfamily ligand-receptor interactions. Curr. Protoc. Protein Sci. 75, doi: 10.1002/0471140864.ps1924s75 (2014).

Antrobus R, Wakefield JG. Isolation, identification, and validation of microtubule-associated proteins from Drosophila embryos. Methods in Molecular Biology 273-291 (2014).

Arif, S., Leete, P., Nguyen, V., Marks, K., Nor, N. M., Estorninho, M., . . . Peakman, M. Blood and islet phenotypes indicate immunological heterogeneity in type 1 diabetes.. Diabetes, 63(11), 3835-3845 (2014).

Bashirova AA, Martin-Gayo E, Jones DC, Qi Y, Apps R, Gao X, Burke PS, Taylor CJ, Rogich J, Wolinsky S, Bream JH, Duggal P, Hussain S, Martinson J, Weintrob A, Kirk GD, Fellay J, Buchbinder SP, Goedert JJ, Deeks SG, Pereyra F, Trowsdale J, Lichterfeld M, Telenti A, Walker BD, Allen RL, Carrington M, Yu XG. LILRB2 interaction with HLA class I correlates with control of HIV-1 infection. PLoS Genet. 10, e1004196 (2014).

Behrens, M. A., Sendall, T. J., Pedersen, J. S., Kjeldgaard, M., Huntington, J. A., & Jensen, J. K. The shapes of z-a1-antitrypsin polymers in solution support the C-terminal domain-swap mechanism of polymerization.. Biophys J, 107(8), 1905-1912 (2014).

Bell, C. J., Sun, Y., Nowak, U. M., Clark, J., Howlett, S., Pekalski, M. L., . . . Peterson, L. B. Sustained in vivo signaling by long-lived IL-2 induces prolonged increases of regulatory T cells.. J Autoimmun. doi:10.1016/j.jaut.2014.10.002 (2014).

Bennett, D. L., & Woods, C. G. Painful and painless channelopathies. Lancet Neurol, 13(6), 587-599 (2014).

Béziat V, Traherne J, Malmberg JA, Ivarsson MA, Björkström NK, Retière C, Ljunggren HG, Michaëlsson J, Trowsdale J, Malmberg KJ. Tracing dynamic expansion of human NK-cell subsets by high-resolution analysis of KIR repertoires and cellular differentiation. Eur. J. Immunol. 10.1002/eji.201444464 (2014).

Bökers S, Urbat A, Daniel C, Amann K, Smith KG, Espéli M, Nitschke L. Siglec-G deficiency leads to more severe collagen-induced arthritis and earlier onset of lupus-like symptoms in MRL/lpr mice. J. Immunol. 192, 2994-3002 (2014).

Boname, J. M., Bloor, S., Wandel, M. P., Nathan, J. A., Antrobus, R., Dingwell, K. S., . . . Lehner, P. J. Cleavage by signal peptide peptidase is required for the degradation of selected tail-anchored proteins.. J Cell Biol, 205(6), 847-862 (2014).  

Borner GH, Hein MY, Hirst J, Edgar JR, Mann M, Robinson MS. Fractionation Profiling: a fast and versatile approach for mapping vesicle proteomes and protein-protein interactions. Mol. Biol. Cell pii: mbc.E14-07-1198 (2014).

Brandstaetter H, Kruppa AJ, Buss F. Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane.  Dis Model Mech. 12, 1335-40 (2014).

Bras, J., Guerreiro, R., Darwent, L., Parkkinen, L., Ansorge, O., Escott-Price, V., . . . Hardy, J. Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.. Hum Mol Genet, 23(23), 6139-6146 (2014).

Breusegem SY, Seaman MN. Image-based and biochemical assays to investigate endosomal protein sorting. Methods Enzymol. 534, 155-178 (2014).

Breusegem SY, Seaman MN. Genome-wide RNAi Screen Reveals a Role for Multipass Membrane Proteins in Endosome-to-Golgi Retrieval.Cell Rep.Dec 11;9(5):1931-45 (2014).

Buettner F, Moignard V, Göttgens B, Theis FJ. Probabilistic PCA of censored data: accounting for uncertainties in the visualization of high-throughput single-cell qPCR data. Bioinformatics doi: 10.1093/bioinformatics/btu134 (2014).

Bui T-H, Raymond FL, Van den Veyver IB. Current controversies in prenatal diagnosis 2: Should incidental findings arising from prenatal testing always be reported to patients? Prenatal Diagnosis 34, 12-17 (2014).

Burren OS, Guo H, Wallace C. VSEAMS: A pipeline for variant set enrichment analysis using summary GWAS data identifies IKZF3, BATF and ESRRA as key transcription factors in type 1 diabetes. arXiv:1404.4482 (2014).

Calero-Nieto FJ, Ng FS, Wilson NK, Hannah R, Moignard V, Leal-Cervantes AI, Jimenez-Madrid I, Diamanti E, Wernisch L, Göttgens B. Key regulators control distinct transcriptional programmes in blood progenitor and mast cells. EMBO J. 33, 1212-1226 (2014).

Chambers, J. E., & Marciniak, S. J. Cellular Mechanisms of Endoplasmic Reticulum Stress Signaling in Health and Disease. 2. Protein misfolding and ER stress.. Am J Physiol Cell Physiol, 307(8), C657-C670 (2014).

Chan, W. L., Zhou, A., & Read, R. J. Towards engineering hormone-binding globulins as drug delivery agents.. PLoS One, 9(11), e113402 (2014).

Chen, L., Kostadima, M., Martens, J. H., Canu, G., Garcia, S. P., Turro, E., . . . Rendon, A. Transcriptional diversity during lineage commitment of human blood progenitors.. Science, 345(6204), 1251033 (2014).

Clarke HJ, Chambers JE, Liniker E, Marciniak SJ. Endoplasmic Reticulum Stress in Malignancy. Cancer Cell 25, 563-573 (2014).

Clatworthy, M. R., Aronin, C. E., Mathews, R. J., Morgan, N. Y., Smith, K. G., & Germain, R. N. Immune complexes stimulate CCR7-dependent dendritic cell migration to lymph nodes. Nature Med 20(12), 1458-1463(2014).

Clatworthy MR, Matthews RJ, Doehler B, Willcocks LC, Opelz G, Smith KG. Defunctioning polymorphism in the immunoglobulin G inhibitory receptor (FcγRIIB-T/T232) does not impact on kidney transplant or recipient survival. Transplantation 98, 285-291 (2014).

Colucci F, Moffett A, Trowsdale J. Medawar and the immunological paradox of pregnancy: 60 years on. Eur. J. Immunol. 44, 1883-1885 (2014).

Cooper, N. J., Shtir, C. J., Smyth, D. J., Guo, H., Swafford, A. D., Zanda, M., . . . Todd, J. A. Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes.. Hum Mol Genet. doi:10.1093/hmg/ddu581 (2014).

Corrochano, S., Renna, M., Osborne, G., Carter, S., Stewart, M., May, J., . . . Acevedo-Arozena, A. Reducing Igf-1r levels leads to paradoxical and sexually dimorphic effects in HD mice.. PLoS One, 9(8), e105595 (2014).

Cruchaga, C., Karch, C. M., Jin, S. C., Benitez, B. A., Cai, Y., Guerreiro, R., . . . Goate, A. M. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.. Nature, 505(7484), 550-554 (2014).

de Diego, I., Veillard, F., Sztukowska, M. N., Guevara, T., Potempa, B., Pomowski, A., . . . Gomis-Rüth, F. X. Structure and Mechanism of Cysteine Peptidase Gingipain K (Kgp), a Major Virulence Factor of Porphyromonas gingivalis in Periodontitis.. J Biol Chem, 289(46), 32291-32302 (2014).

Dickel DE, Zhu Y, Nord AS, Wylie JN, Akiyama JA, Afzal V, Plajzer-Frick I, Kirkpatrick A, Göttgens B, Bruneau BG, Visel A, Pennacchio LA. Function-based identification of mammalian enhancers using site-specific integration. Nature Meth. doi: 10.1038/nmeth.2886 (2014).

Downes K, Marcovecchio ML, Clarke P, Cooper JD, Ferreira RC, Howson JMM, Jolley J, Nutland S, Stevens HE, Walker NM, Wallace C, Dunger DB, Todd JA. Plasma concentrations of soluble IL-2 receptor α (CD25) are increased in type 1 diabetes and associated with reduced C-peptide levels in young patients. Diabetologia 57, 366-372 (2014).

Echols N, Moriarty NW, Klei HE, Afonine PV, Bunkí_czi G, Headd JJ, McCoy AJ, Oeffner RD, Read RJ, Terwilliger TC, Adams PD. Automating crystallographic structure solution and refinement of protein-ligand complexes. Acta Crystallogr D Biol Crystallogr. 70, 144-154 (2014).

Echols N, Morshed N, Afonine PV, McCoy AJ, Miller MD, Read RJ, Richardson JS, Terwilliger TC, Adams PD. Automated identification of elemental ions in macromolecular crystal structures. Acta Crystallogr D Biol Crystallogr. 70, 1104-1114 (2014).

Escott-Price, V., Bellenguez, C., Wang, L. S., Choi, S. H., Harold, D., Jones, L., . . . Cardiovascular Health Study (CHS). (2014). Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.. PLoS One, 9(6), e94661 (2014).

Esposito, L., Hunter, K. M., Clark, J., Rainbow, D. B., Stevens, H., Denesha, J., . . . Wicker, L. S. Investigation of soluble and transmembrane CTLA-4 isoforms in serum and microvesicles.. J Immunol, 193(2), 889-900 (2014).

Evangelou, M., Smyth, D. J., Fortune, M. D., Burren, O. S., Walker, N. M., Guo, H., . . . Wallace, C. A method for gene-based pathway analysis using genomewide association study summary statistics reveals nine new type 1 diabetes associations.. Genet Epidemiol, 38(8), 661-670 (2014).

Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF. Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2. J. Neurol. 1-7 (2014).

Ferrari R et al.  … St George-Hyslop P … Momeni P. Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol. 13, 686-699 (2014).

Ferreira RC, Guo H, Coulson RM, Smyth DJ, Pekalski ML, Burren OS, Cutler AJ, Doecke JD, Flint S, McKinney EF, Lyons PA, Smith KG, Achenbach P, Beyerlein A, Dunger DB, Wicker LS, Todd JA, Bonifacio E, Wallace C, Ziegler AG. A type I interferon transcriptional signature precedes autoimmunity in children genetically at-risk of type 1 diabetes. Diabetes 63, 2538-2550 (2014).

Fielding CA, Aicheler R, Stanton RJ, Wang EC, Han S, Seirafian S, Davies J, McSharry BP, Weekes MP, Antrobus PR, Prod'homme V, Blanchet FP, Sugrue D, Cuff S, Roberts D, Davison AJ, Lehner PJ, Wilkinson GW, Tomasec P. Two Novel Human Cytomegalovirus NK Cell Evasion Functions Target MICA for Lysosomal Degradation. PLoS Pathog. 10, e1004058 (2014).

Fosby B, Næss S, Hov JR, Traherne J, Boberg KM, Trowsdale J, Foss A, Line PD, Franke A, Melum E, Scott H, Karlsen TH. HLA variants related to primary sclerosing cholangitis influence rejection after liver transplantation. World J. Gastroenterol. 20, 3986-4000 (2014).

Freeman CL, Hesketh G, Seaman MN. RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation. J. Cell Sci. 127, 2053-2070 (2014).

Futema M, Plagnol V, Li K, Whittall RA, Neil HA, Seed M, Simon Broome Consortium, Bertolini S, Calandra S, Descamps OS, Graham CA, Hegele RA, Karpe F, Durst R, Leitersdorf E, Lench N, Nair DR, Soran H, Van Bockxmeer FM, UK10K Consortium, Humphries SE. Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations. J. Med. Genet. 51, 537-544 (2014).

Galluzzi L et al …. Rubinsztein DC … Kroemer G. Essential versus accessory aspects of cell death: recommendations of the NCCD 2015. Cell Death Diff. doi: 10.1038/cdd.2014.137 (2014).

Ghani M, Lang AE, Zinman L, Nacmias B, Sorbi S, Bessi V, Tedde A, Tartaglia MC, Surace EI, Sato C, Moreno D, Xi Z, Hung R, Nalls MA, Singleton A, St George-Hyslop P, Rogaeva E. Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol. Aging doi: 10.1016/j.neurobiolaging.2014.07.038 (2014).

Girardot M, Pecquet C, Chachoua I, Van Hees J, Guibert S, Ferrant A, Knoops L, Baxter EJ, Beer PA, Giraudier S, Moriggl R, Vainchenker W, Green AR, Constantinescu SN. Persistent STAT5 activation in myeloid neoplasms recruits p53 into gene regulation. Oncogene 10.1038/onc.2014.60 (2014).

Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA, UK10K Consortium, Hurles M, Raymond FL. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. Am. J. Hum. Genet. 94, 618-624 (2014).

Guglielmelli P, Nangalia J, Green AR, Vannucchi AM. CALR mutations in myeloproliferative neoplasms: Hidden behind the reticulum. Am. J. Hematol. 89, 453-456 (2014).

Gulati, P., Avezov, E., Ma, M., Antrobus, R., Lehner, P., O'Rahilly, S., . . . Yeo, G. S. Fat mass and obesity-related (FTO) shuttles between the nucleus and cytoplasm.. Biosci Rep, 34(5). doi:10.1042/BSR20140111 (2014).

Hepburn, L., Prajsnar, T. K., Klapholz, C., Moreno, P., Loynes, C. A., Ogryzko, N. V., . . . Floto, R. A. Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus.. Science, 346(6209), 641-646 (2014).

Herold KC, Gitelman SE, Willi SM, Gottlieb PA, Waldron-Lynch F, Devine L, Sherr J, Rosenthal SM, Adi S, Jalaludin MY, Michels AW, Dziura J, Bluestone JA. Teplizumab treatment may improve C-peptide responses in participants with type 1 diabetes after the new-onset period: A randomized controlled trial. Diabetes Technology and Therapeutics 16, (2014).

Hesketh, G. G., Pérez-Dorado, I., Jackson, L. P., Wartosch, L., Schäfer, I. B., Gray, S. R., . . . Owen, D. J. VARP is recruited on to endosomes by direct interaction with retromer, where together they function in export to the cell surface.. Dev Cell, 29(5), 591-606 (2014).

Hiemstra TF, Charles PD, Gracia T, Hester SS, Gatto L, Al-Lamki R, Floto RA, Su Y, Skepper JN, Lilley KS, Karet Frankl FE. Human Urinary Exosomes as Innate Immune Effectors. J. Am. Soc. Nephrol. doi: 10.1681/ASN.2013101066 (2014).

Hirst, J., Schlacht, A., Norcott, J. P., Traynor, D., Bloomfield, G., Antrobus, R., . . . Robinson, M. S. Characterization of TSET, an ancient and widespread membrane trafficking complex.. Elife, 3, e02866 (2014).

Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. Am. J. Hum. Genet. 94, 470-478 (2014).

Huntington JA. Natural inhibitors of thrombin. Thromb Haemost. 111, 583-589 (2014).

Jackson N, Compton E, Trowsdale J, Kelly AP. Recognition of Salmonella by Dectin-1 induces presentation of peptide antigen to type B T cells. Eur. J. Immunol. 44, 962-969 (2014).

Jackson RN, Golden SM, van Erp PB, Carter J, Westra ER, Brouns SJ, van der Oost J, Terwilliger TC, Read RJ, Wiedenheft B. Structural biology. Crystal structure of the CRISPR RNA-guided surveillance complex from Escherichia coli. Science 345, 1473-1479 (2014).

Jama GM, Scarci M, Bowden J, Marciniak SJ. Palliative treatment for symptomatic malignant pericardial effusion. Interact. Cardiovasc. Thorac. Surg. pii: ivu267 (2014).

Jenkins MR, Stinchcombe JC, Au-Yeung BB, Asano Y, Ritter AT, Weiss A, Griffiths GM. Distinct structural and catalytic roles for Zap70 in formation of the immunological synapse in CTL. Elife 3, e89561 (doi: 10.7554/eLife.01310) (2014).

Jones DC, Peacock S, Hughes D, Traherne JA, Allen RL, Barnardo MC, Friend P, Taylor CJ, Fuggle S, Trowsdale J, Young NT. Killer immunoglobulin-like receptor gene repertoire influences viral load of primary human cytomegalovirus infection in renal transplant patients. Genes Immun. doi: 10.1038/gene.2014.53 (2014).

Joshi A, Göttgens B. Concerted bioinformatic analysis of the genome-scale blood transcription factor compendium reveals new control mechanisms. Mol. Biosyst. 10, 2935-2941 (2014).

Kanemoto, S., Griffin, J., Markham-Coultes, K., Aubert, I., Tandon, A., George-Hyslop, P. S., . . . Fraser, P. E. Proliferation, differentiation and amyloid-β production in neural progenitor cells isolated from TgCRND8 mice.. Neuroscience 261, 52-59 (2014).

Kelly BT, Graham SC, Liska N, Dannhauser PN, Höning S, Ungewickell EJ and Owen DJ. AP2 controls clathrin polymerization with a membrane-activated switch. Science 345, 459-463 (2014).

Khabirova, E., Moloney, A., Marciniak, S. J., Williams, J., Lomas, D. A., Oliver, S. G., . . . Crowther, D. C. The TRiC/CCT chaperone is implicated in Alzheimer's disease based on patient GWAS and an RNAi screen in Aβ-expressing Caenorhabditis elegans. PLoS One 9(7), e102985 (2014).

Kochupurakkal NM, Kruger AJ, Tripathi S, Zhu B, Adams LT, Rainbow DB, Rossini A, Greiner DL, Sayegh MH, Wicker LS, Guleria I. Blockade of the programmed death-1 (PD1) pathway undermines potent genetic protection from type 1 diabetes. PLoS One 9, e89561 (2014).

Langdown J, Luddington RJ, Huntington JA, Baglin TP. A hereditary bleeding disorder resulting from a premature stop codon in thrombomodulin (p.Cys537Stop). Blood 124, 1951-1956 (2014).

Lechtenberg BC, Freund SMV, Huntington JA. GpIbα interacts exclusively with exosite II of thrombin. J. Mol. Biol. 426, 881-893 (2014).

Le Pape, S., Dimitrova, E., Hannaert, P., Konovalov, A., Volmer, R., Ron, D., . . . Hauet, T. Polynomial algebra reveals diverging roles of the unfolded protein response in endothelial cells during ischemia-reperfusion injury. FEBS Lett, 588(17), 3062-3067 (2014).

Li J, Kent DG, Godfrey AL, Manning H, Nangalia J, Aziz A, Chen E, Saeb-Parsy K, Fink J, Sneade R, Hamilton TL, Pask DC, Silber Y, Zhao X, Ghevaert C, Liu P, Green AR. JAK2V617F-homozygosity drives a phenotypic switch between myeloproliferative neoplasms in a murine model, but is insufficient to sustain clonal expansion. Blood 10.1182/blood-2013-06-510222 (2014).

Li Y, Lu SH-J, Tsai C-J, Bohm C, Qamar S, Dodd RB, Meadows W, Jeon A, McLeod A, Chen F, Arimon M, Berezovska O, Hyman BT, Tomita T, Iwatsubo T, Johnson CM, Farrer LA, Schmitt-Ulms G, Fraser PE, St George-Hyslop PH. Structural interactions between inhibitor and substrate docking sites give insight into mechanisms of human PS1 complexes. Structure 22, 125-135 (2014).

Lin, Y., Huang, G., Jamison, S., Li, J., Harding, H. P., Ron, D., . . . Lin, W. PERK activation preserves the viability and function of remyelinating oligodendrocytes in immune-mediated demyelinating diseases.. Am J Pathol, 184(2), 507-519 (2014).

Lin Y, Pang X, Huang G, Jamison S, Fang J, Harding HP, Ron D, Lin W. Impaired Eukaryotic Translation Initiation Factor 2B Activity Specifically in Oligodendrocytes Reproduces the Pathology of Vanishing White Matter Disease in Mice. J. Neurosci. 34, 12182-12191 (2014).

Linterman, M. A., Denton, A. E., Clare, S., Kane, L., Dougan, G., Espeli, M., . . . Smith, K. G. C. CD28 expression is required after T cell priming for helper T cell responses and protective immunity to infection. Immunology 143, 63 (2014).

Liu, H., Huang, L., Bradley, J., Liu, K., Bardhan, K., Ron, D., . . . McGaha, T. L. GCN2-dependent metabolic stress is essential for endotoxemic cytokine induction and pathology.. Mol Cell Biol, 34(3), 428-438 (2014).

López-Àlvarez MR, Jones DC, Jiang W, Traherne JA, Trowsdale J. Copy number and nucleotide variation of the LILR family of myelomonocytic cell activating and inhibitory receptors. Immunogenetics 66, 73-83 (2014).

Luzio, J. P., Hackmann, Y., Dieckmann, N. M., & Griffiths, G. M. The biogenesis of lysosomes and lysosome-related organelles. Cold Spring Harb Perspect Biol, 6(9), a016840 (2014).  

Mahata B, Zhang X, Kolodziejczyk AA, Proserpio V, Haim-Vilmovsky L, Taylor AE, Hebenstreit D, Dingler FA, Moignard V, Göttgens B, Arlt W, McKenzie AN, Teichmann SA. Single-Cell RNA Sequencing Reveals T Helper Cells Synthesizing Steroids De Novo to Contribute to Immune Homeostasis. Cell Rep. doi: 10.1016/j.celrep.2014.04.011 (2014).

Marciniak SJ, Lomas DA. Genetic Susceptibility. Clinics in Chest Medicine 35, 29-38 (2014).

Matheson, N. J., Peden, A. A., & Lehner, P. J. Antibody-Free Magnetic Cell Sorting of Genetically Modified Primary Human CD4+ T Cells by One-Step Streptavidin Affinity Purification.. PLoS One, 9(10), e111437 (2014).

McKinney EF, Willcocks LC, Broecker V, Smith KG. The immunopathology of ANCA-associated vasculitis. Semin. Immunopathol. 36, 461-478 (2014).

Meazza, R., Tuberosa, C., Cetica, V., Falco, M., Parolini, S., Grieve, S., . . . Pende, D. Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis. Journal of Allergy and Clinical Immunology 134, 1381-1387.e7 (2014).

Menzies FM, Garcia-Arencibia M, Imarisio S, O'Sullivan NC, Ricketts T, Kent BA, Rao MV, Lam W, Green-Thompson ZW, Nixon RA, Saksida LM, Bussey TJ, O'Kane CJ, Rubinsztein DC. Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity. Cell Death Differ. doi: 10.1038/cdd.2014.151 (2014).

Michel, C. H., Kumar, S., Pinotsi, D., Tunnacliffe, A., St George-Hyslop, P., Mandelkow, E., . . . Kaminski Schierle, G. S. Extracellular monomeric tau protein is sufficient to initiate the spread of tau protein pathology. J Biol Chem, 289(2), 956-967 (2014).

Mirshekar-Syahkal B, Fitch SR, Ottersbach K. From greenhouse to garden: The changing soil of the hematopoietic stem cell microenvironment during development. Stem Cells doi: 10.1002/stem.1680 (2014).

Moignard V, Göttgens B. Transcriptional mechanisms of cell fate decisions revealed by single cell expression profiling. Bioessays 36, 419-426 (2014).

Moreau K, Fleming A, Imarisio S, Lopez Ramirez A, Mercer JL, Jimenez-Sanchez M, Bento CF, Puri C, Zavodszky E, Siddiqi F, Lavau CP, Betton M, O'Kane CJ, Wechsler DS, Rubinsztein DC. PICALM modulates autophagy activity and tau accumulation. Nature Commun. 5:4998. doi: 10.1038/ncomms5998 (2014).

Naj AC et al.  … St George-Hyslop PH … Pericak-Vance MA, and the Alzheimer Disease Genetics Consortium. Effects of Multiple Genetic Loci on Age at Onset in Late-Onset Alzheimer Disease: A Genome-Wide Association Study. JAMA Neurol. doi: 10.1001/jamaneurol.2014.1491 (2014).

Narayan P, Holmström KM, Kim DH, Whitcomb DJ, Wilson MR, St George-Hyslop P, Wood NW, Dobson CM, Cho K, Abramov AY, Klenerman D. Rare Individual Amyloid-β Oligomers Act on Astrocytes to Initiate Neuronal Damage. Biochemistry 53, 2442-2453 (2014).

Ong SG, Lee WH, Theodorou L, Kodo K, Lim SY, Shukla DH, Briston T, Kiriakidis S, Ashcroft M, Davidson SM, Maxwell PH, Yellon DM, Hausenloy DJ. HIF-1 reduces ischaemia-reperfusion injury in the heart by targeting the mitochondrial permeability transition pore. Cardiovasc. Res. 104, 24-36 (2014).

Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM, UK10K, Mitchison HM. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. J. Med. Genet. 51, 61-67 (2014).

Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, Thomas B, Dixon M, Hirst RA, Rutman A, Burgoyne T, Williams C, Scully J, Bolard F, Lafitte JJ, Beales PL, Hogg C, Yang P, Chung EM, Emes RD, O'Callaghan C, UK10K, Bouvagnet P, Mitchison HM. Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects. Hum. Mol. Genet. 23, 3362-3374 (2014).

Pellicano F, Scott MT, Helgason GV, Hopcroft LE, Allan EK, Aspinall-O'Dea M, Copland M, Pierce A, Huntly BJ, Whetton AD, Holyoake TL. The anti-proliferative activity of kinase inhibitors in chronic myeloid leukaemia cells is mediated by FOXO transcription factors. Stem Cells doi: 10.1002/stem.1748 (2014).

Petersen N, Reimann F, Bartfeld S, Farin HF, Ringnalda FC, Vries RG, van den Brink S, Clevers H, Gribble FM, de Koning EJ. Generation of L cells in mouse and human small intestine organoids. Diabetes 63, 410-420 (2014).

Placke T, Faber K, Nonami A, Putwain SL, Salih HR, Heidel FH, Krämer A, Root DE, Barbie DA, Krivtsov AV, Armstrong SA, Hahn WC, Huntly BJ, Sykes SM, Milsom MD, Scholl C, Fröhling S. Requirement for CDK6 in MLL-rearranged acute myeloid leukemia. Blood 10.1182/blood-2014-02-558114 (2014).

Pomowski A, Ustok FI, Huntington JA. Homology model of human prothrombinase based on the crystal structure of Pseutarin C. Biol. Chem. 395, 1233-1241 (2014).

Pontikos N, Smyth DJ, Schuilenburg H, Howson JM, Walker NM, Burren OS, Guo H, Onengut-Gumuscu S, Chen WM, Concannon P, Rich SS, Jayaraman J, Jiang W, Traherne JA, Trowsdale J, Todd JA, Wallace C. A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples. BMC Genomics 15, 274 (2014).

Prick J, de Haan G, Green AR, Kent DG. Clonal heterogeneity as a driver of disease variability in the evolution of myeloproliferative neoplasms. Experimental Hematology  doi: 10.1016/j.exphem.2014.07.268 (2014).

Puri, C., Renna, M., Bento, C. F., Moreau, K., & Rubinsztein, D. C. ATG16L1 meets ATG9 in recycling endosomes: additional roles for the plasma membrane and endocytosis in autophagosome biogenesis. Autophagy, 10(1), 182-184 (2014).

Qi X, Chan WL, Read RJ, Zhou A, Carrell RW. Temperature-responsive release of thyroxine and its environmental adaptation in Australians. Proc. Biol. Sci. doi: 10.1098/rspb.2013.2747 (2014).

Rintoul RC, Rassl DM, Maskell N, Gittins J, Szlosarek PW, Kerr KM, Booton R, Hughes V, Fennell DA, Marciniak SJ. MesobanK - a UK based bioresource for malignant mesothelioma. Lung Cancer 83, S82 (2014).

Roberts CH, Jiang W, Jayaraman J, Trowsdale J, Holland MJ, Traherne JA.  Killer-cell Immunoglobulin-like Receptor gene linkage and copy number variation analysis by droplet digital PCR. Genome Med. 6, 20 (2014).

Scotter EL, Vance C, Nishimura AL, Lee YB, Chen HJ, Urwin H, Sardone V, Mitchell JC, Rogelj B, Rubinsztein DC, Shaw CE. Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species. J. Cell Sci. 127, 1263-1278 (2014).

Seaman, M. N. J., & Freeman, C. L. Analysis of the Retromer complex-WASH complex interaction illuminates new avenues to explore in Parkinson disease.. Commun Integr Biol, 7, e29483 (2014).

Segovia M, Louvet C, Charnet P, Savina A, Tilly G, Gautreau L, Carretero-Iglesia L, Beriou G, Cebrian I, Cens T, Hepburn L, Chiffoleau E, Floto RA, Anegon I, Amigorena S, Hill M, Cuturi MC. Autologous dendritic cells prolong allograft survival through tmem176b-dependent antigen cross-presentation. Am. J. Transplant 14, 1021-1031 (2014).

Seguin SJ, Morelli FF, Vinet J, Amore D, De Biasi S, Poletti A, Rubinsztein DC, Carra S. Inhibition of autophagy, lysosome and VCP function impairs stress granule assembly. Cell Death Differ. doi: 10.1038/cdd.2014.103 (2014).

Shah AV, Birdsey GM, Reynolds LE, Dufton N, Almagro LO, Yang Y, Aspalter IM, Khan ST, Mason JC, Dejana E, Göttgens B, Hodivala-Dilke K, Gerhardt H, Adams RH, Randi AM. The endothelial transcription factor ERG promotes vascular stability and growth through Wnt/beta-catenin signalling. Angiogenesis 17, 715 (2014).

Sieni E, Cetica V, Hackmann Y, Coniglio ML, Da Ros M, Ciambotti B, Pende D, Griffiths G, Aricò M. Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning. Front Immunol. 5, 167 (2014).

Sive JI, Göttgens B. Transcriptional network control of normal and leukaemic haematopoiesis. Exp. Cell Res. doi: 10.1016/j.yexcr.2014.06.021 (2014).

Sliwiak J, Jaskolski M, Dauter Z, McCoy AJ, Read RJ. Likelihood-based molecular-replacement solution for a highly pathological crystal with tetartohedral twinning and sevenfold translational noncrystallographic symmetry. Acta Crystallogr. D. Biol. Crystallogr. 70, 471-480 (2014).

Stanton RJ, Prod'homme V, Purbhoo MA, Moore M, Aicheler RJ, Heinzmann M, Bailer SM, Haas J, Antrobus R, Weekes MP, Lehner PJ, Vojtesek B, Miners KL, Man S, Wilkie GS, Davison AJ, Wang EC, Tomasec P, Wilkinson GW. HCMV pUL135 Remodels the Actin Cytoskeleton to Impair Immune Recognition of Infected Cells. Cell Host Microbe 16, 201-214 (2014).

Steele JW, Brautigam H, Short JA, Sowa A, Shi M, Yadav A, Weaver CM, Westaway D, Fraser PE, St George-Hyslop PH, Gandy S, Hof PR, Dickstein DL. Early fear memory defects are associated with altered synaptic plasticity and molecular architecture . in the TgCRND8 Alzheimer's disease mouse model. J. Comp. Neurol. 522, 2319-2335 (2014).

Stinchcombe, J. C., & Griffiths, G. M. Communication, the centrosome and the immunological synapse. Philos Trans R Soc Lond B Biol Sci, 369(1650) (2014).

Su Y, Al-Lamki RS, Blake-Palmer KG, Best A, Golder ZJ, Zhou A, Karet Frankl FE. Physical and Functional Links between Anion Exchanger-1 and Sodium Pump. J. Am. Soc. Nephrol. pii: ASN.2013101063 (2014).

Sun D, Luo M, Jeong M, Rodriguez B, Xia Z, Hannah R, Wang H, Le T, Faull KF, Chen R, Gu H, Bock C, Meissner A, Göttgens B, Darlington GJ, Li W, Goodell MA. Epigenomic Profiling of Young and Aged HSCs Reveals Concerted Changes during Aging that Reinforce Self-Renewal. Cell Stem Cell 14, 673-688 (2014).

Tan L, Dickens JA, Demeo DL, Miranda E, Perez J, Rashid ST, Day J, Ordoñez A, Marciniak SJ, Haq I, Barker AF, Campbell EJ, Eden E, McElvaney NG, Rennard SI, Sandhaus RA, Stocks JM, Stoller JK, Strange C, Turino G, Rouhani FN, Brantly M, Lomas DA. Circulating polymers in α1-antitrypsin deficiency. Eur. Respir. J. 43, 1501-1504 (2014).

Thompson WS, Pekalski ML, Simons HZ, Smyth DJ, Castro-Dopico X, Guo H, Guy C, Dunger DB, Arif S, Peakman M, Wallace C, Wicker LS, Todd JA, Ferreira RC. Multi-parametric flow cytometric and genetic investigation of the peripheral B-cell compartment in human type 1 diabetes. Clin. Exp. Immunol. doi: 10.1111/cei.12362 (2014).

Todd JA. Constitutive antiviral immunity at the expense of autoimmunity. Immunity 40, 167-169 (2014).

Tsunoda, S., Avezov, E., Zyranova, A., Konno, T., Mendes-Silva, L., Pinho Melo, E., Harding, H.P. and Ron, D. Intact protein folding in the glutathione-depleted endoplasmic reticulum implicates alternative protein thiol reductants. Elife 3:e03421. doi: 10.7554/eLife.03421 (2014).

van den Boomen DJ, Timms RT, Grice GL, Stagg HR, Skødt K, Dougan G, Nathan JA and Lehner PJ. TMEM129 is a Derlin-1 associated ERAD E3 ligase essential for virus-induced degradation of MHC-I. Proc. Natl Acad. Sci. USA 111, 11425-11430 (2014).

van 't Wout EF, Hiemstra PS, Marciniak SJ. The Integrated Stress Response in Lung Disease. Am. J. Respir. Cell. Mol. Biol. doi: 10.1165/rcmb.2014-0019TR (2014).

van Galen P, Kreso A, Mbong N, Kent DG, Fitzmaurice T, Chambers JE, Xie S, Laurenti E, Hermans K, Eppert K, Marciniak SJ, Goodall JC, Green AR, Wouters BG, Wienholds E, Dick JE. The unfolded protein response governs integrity of the haematopoietic stem-cell pool during stress. Nature doi: 10.1038/nature13228 (2014).

Wallin EF, Jolly EC, Suchánek O, Bradley JA, Espéli M, Jayne DR, Linterman MA, Smith KG. Human T follicular helper and T follicular regulatory cell maintenance is independent of germinal centers. Blood pii: blood-2014-07-585976 (2014).

Weekes, M. P., Tomasec, P., Huttlin, E. L., Fielding, C. A., Nusinow, D., Stanton, R. J., . . . Gygi, S. P. Quantitative temporal viromics: an approach to investigate host-pathogen interaction.. Cell, 157(6), 1460-1472 (2014).

Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO, UK10K Consortium, Fitzpatrick DR. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. Am. J. Hum. Genet. 94, 295-302 (2014).

Wilkinson AC, Kawata VK, Schütte J, Gao X, Antoniou S, Baumann C, Woodhouse S, Hannah R, Tanaka Y, Swiers G, Moignard V, Fisher J, Hidetoshi S, Tijssen MR, de Bruijn MF, Liu P, Gottgens B. Single-cell analyses of regulatory network perturbations using enhancer-targeting TALEs suggest novel roles for PU.1 during haematopoietic specification. Development doi:10.1242/dev.115709  (2014).

Zavodszky E, Seaman MN, Moreau K, Jimenez-Sanchez M, Breusegem SY, Harbour ME, Rubinsztein DC. Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy. Nature Comm. 5, 3828 doi: 10.1038/ncomms4828 (2014).