{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T02:40:49Z","timestamp":1792723249457,"version":"4.5.0"},"reference-count":31,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2004,11,1]],"date-time":"2004-11-01T00:00:00Z","timestamp":1099267200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3182,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2004,11]]},"DOI":"10.1086\/425287","type":"journal-article","created":{"date-parts":[[2004,10,4]],"date-time":"2004-10-04T10:27:43Z","timestamp":1096885663000},"page":"822-831","source":"Crossref","is-referenced-by-count":877,"title":["A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis"],"prefix":"10.1016","volume":"75","author":[{"given":"Agnes L.","family":"Nishimura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Mitne-Neto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helga C.A.","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio","family":"Richieri-Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Middleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duilio","family":"Cascio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o R.M.","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Gillingwater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanette","family":"Webb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Skehel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mayana","family":"Zatz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/425287_bib10","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/341230a0","article-title":"NMDA and non-NMDA receptors are co-localized at individual excitatory synapses in cultured rat hippocampus","volume":"341","author":"Bekkers","year":"1989","journal-title":"Nature"},{"key":"10.1086\/425287_bib11","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1006\/jmbi.1996.0575","article-title":"2.5 \u00c5 resolution crystal structure of the motile major sperm protein (MSP) of Ascaris suum","volume":"263","author":"Bullock","year":"1996","journal-title":"J Mol Biol"},{"key":"10.1086\/425287_bib12","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1086\/421054","article-title":"DNA\/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)","volume":"74","author":"Chen","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1086\/425287_bib13","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1212\/01.WNL.0000032500.73621.C5","article-title":"SMN1 gene study in three families in which ALS and spinal muscular atrophy coexist","volume":"59","author":"Corcia","year":"2002","journal-title":"Neurology"},{"key":"10.1086\/425287_bib14","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1086\/342359","article-title":"Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene","volume":"71","author":"Eymard-Pierre","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1086\/425287_bib15","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1034\/j.1600-0854.2000.010609.x","article-title":"A functional role for VAP-33 in insulin-stimulated GLUT4 traffic","volume":"1","author":"Foster","year":"2000","journal-title":"Traffic"},{"key":"10.1086\/425287_bib16","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/ana.10422","article-title":"An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred","volume":"53","author":"Gros-Louis","year":"2003","journal-title":"Ann Neurol"},{"key":"10.1086\/425287_bib17","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1038\/ng1001-166","article-title":"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2","volume":"29","author":"Hadano","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/425287_bib18","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1093\/brain\/119.6.1895","article-title":"Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy","volume":"119","author":"Illarioshkin","year":"1996","journal-title":"Brain"},{"key":"10.1086\/425287_bib19","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1128\/JB.180.7.1700-1708.1998","article-title":"The Saccharomyces cerevisiae SCS2 gene product, a homolog of a synaptobrevin-associated protein, is an integral membrane protein of the endoplasmic reticulum and is required for inositol metabolism","volume":"180","author":"Kagiwada","year":"1998","journal-title":"J Bacteriol"},{"key":"10.1086\/425287_bib20","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1006\/jmbi.2000.3741","article-title":"Enhanced genome annotation using structural profiles in the program 3D-PSSM","volume":"299","author":"Kelley","year":"2000","journal-title":"J Mol Biol"},{"key":"10.1086\/425287_bib21","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1002\/(SICI)1097-4547(19991215)58:6<831::AID-JNR10>3.0.CO;2-M","article-title":"Fast, convenient, and effective method to transiently transfect primary hippocampal neurons","volume":"58","author":"Kohrmann","year":"1999","journal-title":"J Neurosci Res"},{"key":"10.1086\/425287_bib22","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1093\/emboj\/cdg201","article-title":"A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP","volume":"22","author":"Loewen","year":"2003","journal-title":"EMBO J"},{"key":"10.1086\/425287_bib23","doi-asserted-by":"crossref","first-page":"16041","DOI":"10.1073\/pnas.252626399","article-title":"The directional atomic solvation energy: an atom-based potential for the assignment of protein sequences to known folds","volume":"99","author":"Mallick","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/425287_bib24","doi-asserted-by":"crossref","first-page":"2144","DOI":"10.1126\/science.1057586","article-title":"A sperm cytoskeletal protein that signals oocyte meiotic maturation and ovulation","volume":"291","author":"Miller","year":"2001","journal-title":"Science"},{"key":"10.1086\/425287_bib25","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/ng1303","article-title":"Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2","volume":"36","author":"Moreira","year":"2004","journal-title":"Nat Genet"},{"key":"10.1086\/425287_bib26","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1136\/jmg.2003.013029","article-title":"A novel locus for late onset amyotrophic lateral sclerosis\/motor neurone disease variant at 20q13","volume":"41","author":"Nishimura","year":"2004","journal-title":"J Med Genet"},{"key":"10.1086\/425287_bib27","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1006\/bbrc.1998.9876","article-title":"Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins","volume":"254","author":"Nishimura","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/425287_bib28","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S0896-6273(02)00769-9","article-title":"Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner","volume":"35","author":"Pennetta","year":"2002","journal-title":"Neuron"},{"key":"10.1086\/425287_bib29","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/ajmg.1320090206","article-title":"Autosomal dominant late adult spinal muscular atrophy, type Finkel","volume":"9","author":"Richieri-Costa","year":"1981","journal-title":"Am J Med Genet"},{"key":"10.1086\/425287_bib30","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/362059a0","article-title":"Mutations in Cu\/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis","volume":"362","author":"Rosen","year":"1993","journal-title":"Nature"},{"key":"10.1086\/425287_bib31","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1073\/pnas.97.3.1101","article-title":"Mouse VAP33 is associated with the endoplasmic reticulum and microtubules","volume":"97","author":"Skehel","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/425287_bib32","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1126\/science.7667638","article-title":"A VAMP-binding protein from Aplysia required for neurotransmitter release","volume":"269","author":"Skehel","year":"1995","journal-title":"Science"},{"key":"10.1086\/425287_bib33","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1083\/jcb.146.2.301","article-title":"ERG30, a VAP-33-related protein, functions in protein transport mediated by COPI vesicles","volume":"146","author":"Soussan","year":"1999","journal-title":"J Cell Biol"},{"key":"10.1086\/425287_bib34","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1136\/jmg.2003.013201","article-title":"A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21","volume":"41","author":"Takata","year":"2004","journal-title":"J Med Genet"},{"key":"10.1086\/425287_bib35","first-page":"872","article-title":"Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype","volume":"59","author":"Weiler","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/425287_bib36","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1042\/bj3330247","article-title":"Identification of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP","volume":"333","author":"Weir","year":"1998","journal-title":"Biochem J"},{"key":"10.1086\/425287_bib37","doi-asserted-by":"crossref","first-page":"29908","DOI":"10.1074\/jbc.M201191200","article-title":"Vesicle-associated membrane protein-associated protein-A (VAP-A) interacts with the oxysterol-binding protein to modify export from the endoplasmic reticulum","volume":"277","author":"Wyles","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1086\/425287_bib38","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng1001-160","article-title":"The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis","volume":"29","author":"Yang","year":"2001","journal-title":"Nat Genet"},{"key":"10.1086\/425287_bib39","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1016\/S0960-8966(03)00100-7","article-title":"The ten autosomal recessive limb-girdle muscular dystrophies","volume":"13","author":"Zatz","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1086\/425287_bib40","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1097\/00019052-200010000-00002","article-title":"Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes","volume":"13","author":"Zatz","year":"2000","journal-title":"Curr Opin Neurol"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707637872?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707637872?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T03:57:43Z","timestamp":1585886263000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707637872"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11]]},"references-count":31,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2004,11]]}},"alternative-id":["S0002929707637872"],"URL":"https:\/\/doi.org\/10.1086\/425287","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2004,11]]}}}