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CIMR publications

2016 publications:

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, Menzies FM & Rubinsztein DC. Mammalian Autophagy: How Does It Work? Annu Rev Biochem. 85:685-713 (2016).

Burrows N, Cane G, Robson M, Gaude E, J Howat W, Szlosarek PW, Pedley RB, Frezza C, Ashcroft M, Maxwell PH. Hypoxia-induced nitric oxide production and tumour perfusion is inhibited by pegylated arginine deiminase (ADI-PEG20). Scientific Rep. Mar 14;6:22950 (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(3):e0152413. doi: 10.1371/journal.pone.0152413 (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. Nucleic Acid Res. doi: 10.1093/nar/gkw005 (2016).

Peters JE, Lyons PA, Lee JC, Richard AC, Fortune MD, Newcombe PJ, Richardson S, Smith KG. Insight into Genotype-Phenotype Associations through eQTL Mapping in Multiple Cell Types in Health and Immune-Mediated Disease. PLoS Genet. 12(3):e1005908. doi: 10.1371/journal.pgen.1005908 (2016).

Scholz CC, Rodriguez J, Pickel C, Burr S, Fabrizio JA, Nolan KA, Spielmann P, Cavadas MA, Crifo B, Halligan DN, Nathan JA, Peet DJ, Wenger RH, Von Kriegsheim A, Cummins EP, Taylor CT. FIH Regulates Cellular Metabolism through Hydroxylation of the Deubiquitinase OTUB1 PLoS Biol. 14(1):e1002347 (2016).

Wu X, Fleming A, Ricketts T, Pavel M, Virgin H, Menzies FM & Rubinsztein DC. 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).

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).

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).

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