{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:25:19Z","timestamp":1787894719688,"version":"build-2784847793"},"reference-count":70,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,11,1]],"date-time":"2023-11-01T00:00:00Z","timestamp":1698796800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,5,2]],"date-time":"2024-05-02T00:00:00Z","timestamp":1714608000000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["R01AG031867"],"award-info":[{"award-number":["R01AG031867"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS102279"],"award-info":[{"award-number":["R01NS102279"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["K24AR073317"],"award-info":[{"award-number":["K24AR073317"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013114","name":"Broad Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013114","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RF1AG065341"],"award-info":[{"award-number":["RF1AG065341"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2023,11]]},"DOI":"10.1016\/j.ajhg.2023.10.007","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T10:31:30Z","timestamp":1698229890000},"page":"1959-1975","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP"],"prefix":"10.1016","volume":"110","author":[{"given":"Annelise Y.","family":"Mah-Som","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jil","family":"Daw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Huynh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengcheng","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin C.","family":"Creekmore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Burns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A.","family":"Skinner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d8ystein L.","family":"Holla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie F.","family":"Smeland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Planes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Uguen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Redon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatjana","family":"Bierhals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasja","family":"Scholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas","family":"Denecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin A.","family":"Mensah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrike L.","family":"Sczakiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidelis","family":"Tichy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Verheyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmin","family":"Blatterer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Schreiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Thies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Lam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine G.","family":"Spaeth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loren","family":"Pena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keri","family":"Ramsey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinodh","family":"Narayanan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie H.","family":"Seaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydie","family":"Burglen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward B.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsui-Fen","family":"Chou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conrad C.","family":"Weihl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marwan S.","family":"Shinawi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2023.10.007_bib1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/s42003-019-0283-z","article-title":"The Cdc48 unfoldase prepares well-folded proteins substrates for degradation by the 26S proteasome","volume":"2","author":"Olszewski","year":"2019","journal-title":"Commun. Biol."},{"key":"10.1016\/j.ajhg.2023.10.007_bib2","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1016\/j.jmb.2009.09.050","article-title":"A conserved unfoldase activity for the p97 AAA-ATPase in proteasomal degradation","volume":"394","author":"Beskow","year":"2009","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2023.10.007_bib3","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1083\/jcb.200908115","article-title":"Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease","volume":"187","author":"Ju","year":"2009","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2023.10.007_bib4","doi-asserted-by":"crossref","first-page":"217","DOI":"10.4161\/auto.6.2.11014","article-title":"VCP\/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD","volume":"6","author":"Tresse","year":"2010","journal-title":"Autophagy"},{"key":"10.1016\/j.ajhg.2023.10.007_bib5","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.07366","article-title":"VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in\u00a0vivo","volume":"4","author":"Johnson","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2023.10.007_bib6","doi-asserted-by":"crossref","first-page":"1741","DOI":"10.1093\/hmg\/ddq050","article-title":"Transgenic mice expressing mutant forms VCP\/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone","volume":"19","author":"Custer","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib7","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.neuron.2013.02.029","article-title":"VCP is essential for mitochondrial quality control by PINK1\/Parkin and this function is impaired by VCP mutations","volume":"78","author":"Kim","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2023.10.007_bib8","article-title":"Valosin-containing protein (VCP\/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants","volume":"6","author":"Zhang","year":"2017","journal-title":"Elife"},{"key":"10.1016\/j.ajhg.2023.10.007_bib9","doi-asserted-by":"crossref","first-page":"12879","DOI":"10.1073\/pnas.0805944105","article-title":"Cell cycle progression requires the CDC-48UFD-1\/NPL-4 complex for efficient DNA replication","volume":"105","author":"Mouysset","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1016\/j.ajhg.2023.10.007_bib10","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1038\/ncb2367","article-title":"The ubiquitin-selective segregase VCP\/p97 orchestrates the response to DNA double-strand breaks","volume":"13","author":"Meerang","year":"2011","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.ajhg.2023.10.007_bib11","doi-asserted-by":"crossref","first-page":"60","DOI":"10.3389\/fgene.2013.00060","article-title":"Role of p97\/VCP (Cdc48) in genome stability","volume":"4","author":"Vaz","year":"2013","journal-title":"Front. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib12","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1038\/414652a","article-title":"The AAA ATPase Cdc48\/p97 and its partners transport proteins from the ER into the cytosol","volume":"414","author":"Ye","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.10.007_bib13","doi-asserted-by":"crossref","first-page":"14373","DOI":"10.1074\/jbc.M116.729343","article-title":"Pathogenic mutations in the valosin-containing protein\/p97(VCP) N-domain inhibit the SUMOylation of VCP and lead to impaired stress response","volume":"291","author":"Wang","year":"2016","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2023.10.007_bib14","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1126\/science.aad7974","article-title":"2.3\u00a0\u00c5 resolution cryo-EM structure of human p97 and mechanism of allosteric inhibition","volume":"351","author":"Banerjee","year":"2016","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2023.10.007_bib15","article-title":"SVIP induces localization of p97\/VCP to the plasma and lysosomal membranes and regulates autophagy","volume":"6","author":"Wang","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2023.10.007_bib16","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1042\/BST20220648","article-title":"The functional importance of VCP to maintaining cellular protein homeostasis","volume":"50","author":"Ahlstedt","year":"2022","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.ajhg.2023.10.007_bib17","doi-asserted-by":"crossref","DOI":"10.1126\/science.aax1033","article-title":"Substrate processing by the Cdc48 ATPase complex is initiated by ubiquitin unfolding","volume":"365","author":"Twomey","year":"2019","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2023.10.007_bib18","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1126\/science.aax0486","article-title":"Structure of the Cdc48 segregase in the act of unfolding an authentic substrate","volume":"365","author":"Cooney","year":"2019","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2023.10.007_bib19","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1038\/s41594-021-00617-2","article-title":"Mechanistic insight into substrate processing and allosteric inhibition of human p97","volume":"28","author":"Pan","year":"2021","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2023.10.007_bib20","doi-asserted-by":"crossref","first-page":"2640","DOI":"10.1038\/s41467-022-30318-3","article-title":"Active conformation of the p97-p47 unfoldase complex","volume":"13","author":"Xu","year":"2022","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2023.10.007_bib21","doi-asserted-by":"crossref","first-page":"963","DOI":"10.3390\/genes13060963","article-title":"Multisystem proteinopathy due to VCP mutations: a review of clinical heterogeneity and genetic diagnosis","volume":"13","author":"Pfeffer","year":"2022","journal-title":"Genes"},{"key":"10.1016\/j.ajhg.2023.10.007_bib22","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.bbadis.2008.09.003","article-title":"VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder","volume":"1782","author":"Kimonis","year":"2008","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2023.10.007_bib23","doi-asserted-by":"crossref","first-page":"1874","DOI":"10.1212\/WNL.0b013e3182929fc3","article-title":"Motor neuron involvement in multisystem proteinopathy: implications for ALS","volume":"80","author":"Benatar","year":"2013","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2023.10.007_bib24","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1136\/jnnp-2022-328921","article-title":"Genotype-phenotype correlations in valosin-containing protein disease: a retrospective multicentre study","volume":"93","author":"Schiava","year":"2022","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ajhg.2023.10.007_bib28","doi-asserted-by":"crossref","DOI":"10.1038\/embor.2010.49","article-title":"Imbalances in p97 co-factor interactions in human proteinopathy","volume":"11","author":"Fernandez-Saiz","year":"2010","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2023.10.007_bib29","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1111\/j.1365-2443.2010.01428.x","article-title":"Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia","volume":"15","author":"Manno","year":"2010","journal-title":"Gene Cell."},{"key":"10.1016\/j.ajhg.2023.10.007_bib25","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1038\/nsb972","article-title":"Complete structure of p97\/valosin-containing protein reveals communication between nucleotide domains","volume":"10","author":"DeLaBarre","year":"2003","journal-title":"Nat. Struct. Biol."},{"key":"10.1016\/j.ajhg.2023.10.007_bib26","doi-asserted-by":"crossref","first-page":"79","DOI":"10.3389\/fmolb.2016.00079","article-title":"Mutations in the human AAA+ chaperone p97 and related diseases","volume":"3","author":"Tang","year":"2016","journal-title":"Front. Mol. Biosci."},{"key":"10.1016\/j.ajhg.2023.10.007_bib27","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1111\/cge.13095","article-title":"Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy","volume":"93","author":"Al-Obeidi","year":"2018","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib30","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.3233\/JAD-180301","article-title":"Three VCP mutations in patients with frontotemporal dementia","volume":"65","author":"Wong","year":"2018","journal-title":"J.\u00a0Alzheimers Dis."},{"key":"10.1016\/j.ajhg.2023.10.007_bib31","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.neuron.2010.11.036","article-title":"Exome sequencing reveals VCP mutations as a cause of familial ALS","volume":"68","author":"Johnson","year":"2010","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2023.10.007_bib32","doi-asserted-by":"crossref","first-page":"209.e1","DOI":"10.1016\/j.neurobiolaging.2011.07.011","article-title":"Mutational analysis of the VCP gene in Parkinson\u2019s disease","volume":"33","author":"Majounie","year":"2012","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.ajhg.2023.10.007_bib33","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1212\/WNL.0000000000004240","article-title":"VCP-related multisystem proteinopathy presenting as early-onset Parkinson disease","volume":"89","author":"Regensburger","year":"2017","journal-title":"Neurology"},{"key":"10.1016\/j.ajhg.2023.10.007_bib34","doi-asserted-by":"crossref","first-page":"1460","DOI":"10.1038\/ejhg.2016.42","article-title":"Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders","volume":"24","author":"van de Warrenburg","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib35","doi-asserted-by":"crossref","first-page":"2897","DOI":"10.1093\/brain\/awu224","article-title":"A novel mutation in VCP causes Charcot-Marie-Tooth type 2 disease","volume":"137","author":"Gonzalez","year":"2014","journal-title":"Brain"},{"key":"10.1016\/j.ajhg.2023.10.007_bib36","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.neuron.2012.04.009","article-title":"De novo gene disruptions in children on the autistic spectrum","volume":"74","author":"Iossifov","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2023.10.007_bib37","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"A matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2023.10.007_bib38","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1186\/s13073-021-00835-9","article-title":"CADD-Splice\u2014improving genome-wide variant effect prediction using deep learning-derived splice scores","volume":"13","author":"Rentzsch","year":"2021","journal-title":"Genome Med."},{"key":"10.1016\/j.ajhg.2023.10.007_bib39","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","article-title":"REVEL: an ensemble method for predicting the pathogeneicity of rare missense variants","volume":"99","author":"Ioannidis","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib40","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2023.10.007_bib41","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1002\/humu.24088","article-title":"Fitting a naturally scaled point system to the ACMG\/AMP variant classification guidelines","volume":"41","author":"Tavtigian","year":"2020","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2023.10.007_bib42","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Abou Tayoun","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2023.10.007_bib43","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1016\/j.ajhg.2022.10.013","article-title":"Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for use of PP3\/BP4 criteria","volume":"109","author":"Pejaver","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib44","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1038\/s41418-022-01000-4","article-title":"The phosphorylation and dephosphorylation switch of VCP\/p97 regulates the architecture of centrosome and spindle","volume":"29","author":"Zhu","year":"2022","journal-title":"Cell Death Differ."},{"key":"10.1016\/j.ajhg.2023.10.007_bib45","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1038\/nprot.2012.085","article-title":"Template-based protein structure modeling using the RaptorX web server","volume":"7","author":"K\u00e4llberg","year":"2012","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2023.10.007_bib46","doi-asserted-by":"crossref","first-page":"3359","DOI":"10.1093\/bioinformatics\/btv362","article-title":"IBS: an illustrator for the presentation and visualization of biological sequences","volume":"31","author":"Liu","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2023.10.007_bib47","doi-asserted-by":"crossref","first-page":"2886","DOI":"10.1016\/j.jmb.2014.05.022","article-title":"Specific inhibition of p97\/VCP ATPase and kinetic analysis demonstrate interaction between D1 and D2 ATPase domains","volume":"426","author":"Chou","year":"2014","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2023.10.007_bib48","doi-asserted-by":"crossref","first-page":"6353","DOI":"10.1038\/s41598-021-85494-x","article-title":"Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia","volume":"11","author":"Sassi","year":"2021","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2023.10.007_bib49","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2023.10.007_bib50","doi-asserted-by":"crossref","first-page":"13534","DOI":"10.1093\/nar\/gku1206","article-title":"In silico prediction of splice-altering single nucleotide variants in the human genome","volume":"42","author":"Jian","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2023.10.007_bib51","doi-asserted-by":"crossref","first-page":"3648","DOI":"10.1074\/jbc.M208422200","article-title":"ATPase activity of p97-valosin-containing protein (VCP): D2 mediates the major enzyme activity, and D1 contributes to the heat-induced activity","volume":"278","author":"Song","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2023.10.007_bib52","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1016\/j.cell.2017.04.020","article-title":"Molecular mechanism of substrate processing by the Cdc48 ATPase complex","volume":"169","author":"Bodnar","year":"2017","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2023.10.007_bib53","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1016\/j.str.2008.02.010","article-title":"Improved structures of full-length p97, an AAA ATPase: implications for mechanisms of nucleotide-dependent conformational change","volume":"16","author":"Davies","year":"2008","journal-title":"Structure"},{"key":"10.1016\/j.ajhg.2023.10.007_bib54","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200093","article-title":"Clinical classification of variants in the valosin-containing protein gene associated with multisystem proteinopathy","volume":"9","author":"Schiava","year":"2023","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib55","doi-asserted-by":"crossref","first-page":"2257","DOI":"10.1002\/ajmg.a.31465","article-title":"Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism","volume":"140","author":"Lainhart","year":"2006","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib56","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2023.10.007_bib57","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.bbrc.2006.12.206","article-title":"Targeted deletion of p97 (VCP\/CDC48) in mouse results in early embryonic lethality","volume":"354","author":"M\u00fcller","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2023.10.007_bib58","doi-asserted-by":"crossref","first-page":"4820","DOI":"10.1172\/JCI45677","article-title":"Valosin-containing protein and neurofibromin interact to regulate dendritic spine density","volume":"121","author":"Wang","year":"2011","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2023.10.007_bib59","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms11020","article-title":"VCP and ATL1 regulate endoplasmic reticulum and protein synthesis for dendritic spine formation","volume":"7","author":"Shih","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2023.10.007_bib60","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2021.109399","article-title":"Neuronal VCP loss of function recapitulates FTLD-TDP pathology","volume":"36","author":"Wani","year":"2021","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2023.10.007_bib61","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1002\/ajmg.a.35536","article-title":"Report of two patients and further characterization of interstitial 9p13 deletion\u00a0\u2013 a rare but recurrent microdeletion syndrome?","volume":"158A","author":"Niemi","year":"2012","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib62","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1002\/ajmg.a.37534","article-title":"9p13.1p13.3 interstitial deletion: a case report and further delineation of a rare condition","volume":"170A","author":"Crone","year":"2016","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib63","doi-asserted-by":"crossref","first-page":"2694","DOI":"10.1002\/ajmg.a.61807","article-title":"Tremor is a major feature of 9p13 deletion syndrome","volume":"182","author":"Ferreira","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib64","doi-asserted-by":"crossref","first-page":"4484","DOI":"10.1128\/MCB.00252-09","article-title":"Hereditary inclusion body myopathy-linked p97\/VCP mutations in the NH2 domain and the D1 ring modulate p97\/VCP ATPase activity and D2 ring conformation","volume":"29","author":"Halawani","year":"2009","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2023.10.007_bib65","doi-asserted-by":"crossref","first-page":"E4380","DOI":"10.1073\/pnas.1706205114","article-title":"Ubiquitin- and ATP-dependent unfoldase activity of P97\/VCP-NPLOC4-UFD1L is enhanced by a mutation that causes multisystem proteinopathy","volume":"114","author":"Blythe","year":"2017","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.ajhg.2023.10.007_bib66","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1016\/j.str.2019.09.011","article-title":"Multisystem proteinopathy mutations in VCP\/p97 increase NPLOC4-UFD1L binding and substrate processing","volume":"27","author":"Blythe","year":"2019","journal-title":"Structure"},{"key":"10.1016\/j.ajhg.2023.10.007_bib67","doi-asserted-by":"crossref","first-page":"6809","DOI":"10.1038\/s41467-021-27156-0","article-title":"Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis","volume":"12","author":"Weston","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2023.10.007_bib68","doi-asserted-by":"crossref","first-page":"18429","DOI":"10.1073\/pnas.1905690116","article-title":"Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors","volume":"116","author":"Chiba","year":"2019","journal-title":"Proc Nat Acad Sci"},{"key":"10.1016\/j.ajhg.2023.10.007_bib69","article-title":"Rare manifestation of a c.290 C>T, p.gly97glu VCP mutation","volume":"2015","author":"Jerath","year":"2015","journal-title":"Case Rep. Genet."},{"key":"10.1016\/j.ajhg.2023.10.007_bib70","doi-asserted-by":"crossref","DOI":"10.1126\/science.aay8826","article-title":"Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau","volume":"370","author":"Darwich","year":"2020","journal-title":"Science"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929723003609?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929723003609?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:28:06Z","timestamp":1757575686000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929723003609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":70,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["S0002929723003609"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.10.007","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2023,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2023.10.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}