{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:27:57Z","timestamp":1790616477062,"version":"4.1.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1016\/j.gim.2022.08.019","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T03:57:19Z","timestamp":1663819039000},"page":"2487-2500","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease"],"prefix":"10.1016","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5669-7415","authenticated-orcid":false,"given":"Adriana P.","family":"Rebelo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel","family":"Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maike F.","family":"Dohrn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Wayand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amjad","family":"Farooq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt C.","family":"Danzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danique","family":"Beijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brooke","family":"Aaron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Vandrovcova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Matalonga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Abreu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehrdad A.","family":"Estiar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liedewei","family":"Van de Vondel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziv","family":"Gan-Or","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sch\u00fcle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8498-5235","authenticated-orcid":false,"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"17","key":"10.1016\/j.gim.2022.08.019_bib1","doi-asserted-by":"crossref","first-page":"6127","DOI":"10.3390\/ijms21176127","article-title":"Endoplasmic reticulum stress and unfolded protein response in neurodegenerative diseases","volume":"21","author":"Ghemrawi","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"1","key":"10.1016\/j.gim.2022.08.019_bib2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1038\/nsmb.3337","article-title":"FICD acts bifunctionally to AMPylate and de-AMPylate the endoplasmic reticulum chaperone BiP","volume":"24","author":"Preissler","year":"2017","journal-title":"Nat Struct Mol Biol"},{"issue":"6","key":"10.1016\/j.gim.2022.08.019_bib3","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1038\/nchembio0609-378","article-title":"AMPylation is a new post-translational modiFICation","volume":"5","author":"Yarbrough","year":"2009","journal-title":"Nat Chem Biol"},{"issue":"1","key":"10.1016\/j.gim.2022.08.019_bib4","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.molcel.2009.03.008","article-title":"The fic domain: regulation of cell signaling by adenylylation","volume":"34","author":"Worby","year":"2009","journal-title":"Mol Cell"},{"issue":"13","key":"10.1016\/j.gim.2022.08.019_bib5","doi-asserted-by":"crossref","first-page":"8482","DOI":"10.1074\/jbc.M114.618348","article-title":"A\u00a0novel link between Fic (filamentation induced by cAMP)-mediated adenylylation\/AMPylation and the unfolded protein response","volume":"290","author":"Sanyal","year":"2015","journal-title":"J\u00a0Biol Chem"},{"issue":"2","key":"10.1016\/j.gim.2022.08.019_bib6","doi-asserted-by":"crossref","DOI":"10.1093\/femspd\/fty012","article-title":"FIC proteins: from bacteria to humans and back again","volume":"76","author":"Veyron","year":"2018","journal-title":"Pathog Dis"},{"issue":"6","key":"10.1016\/j.gim.2022.08.019_bib7","doi-asserted-by":"crossref","first-page":"2098","DOI":"10.1074\/jbc.REV118.002804","article-title":"The endoplasmic reticulum (ER) chaperone BiP is a master regulator of ER functions: getting by with a little help from ERdj friends","volume":"294","author":"Pobre","year":"2019","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.gim.2022.08.019_bib8","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.12621","article-title":"AMPylation matches BiP activity to client protein load in the endoplasmic reticulum","volume":"4","author":"Preissler","year":"2015","journal-title":"Elife"},{"issue":"1","key":"10.1016\/j.gim.2022.08.019_bib9","doi-asserted-by":"crossref","first-page":"2426","DOI":"10.1038\/s41467-021-22596-0","article-title":"Specificity of AMPylation of the human chaperone BiP is mediated by TPR motifs of FICD","volume":"12","author":"Fauser","year":"2021","journal-title":"Nat Commun"},{"issue":"1","key":"10.1016\/j.gim.2022.08.019_bib10","doi-asserted-by":"crossref","first-page":"5004","DOI":"10.1038\/s41467-021-25076-7","article-title":"Structures of a deAMPylation complex rationalise the switch between antagonistic catalytic activities of FICD","volume":"12","author":"Perera","year":"2021","journal-title":"Nat Commun"},{"issue":"7383","key":"10.1016\/j.gim.2022.08.019_bib11","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/nature10729","article-title":"Adenylylation control by intra- or intermolecular active-site obstruction in Fic proteins","volume":"482","author":"Engel","year":"2012","journal-title":"Nature"},{"issue":"3","key":"10.1016\/j.gim.2022.08.019_bib12","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1212\/01.wnl.0000228242.53336.90","article-title":"The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity","volume":"67","author":"Sch\u00fcle","year":"2006","journal-title":"Neurology"},{"issue":"7","key":"10.1016\/j.gim.2022.08.019_bib13","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1212\/01.WNL.0000156802.15466.79","article-title":"Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale","volume":"64","author":"Subramony","year":"2005","journal-title":"Neurology"},{"issue":"7809","key":"10.1016\/j.gim.2022.08.019_bib14","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"},{"issue":"D1","key":"10.1016\/j.gim.2022.08.019_bib15","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"issue":"7","key":"10.1016\/j.gim.2022.08.019_bib16","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1101\/gr.3577405","article-title":"Distribution and intensity of constraint in mammalian genomic sequence","volume":"15","author":"Cooper","year":"2005","journal-title":"Genome Res"},{"issue":"5","key":"10.1016\/j.gim.2022.08.019_bib17","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.gim.2022.08.019_bib18","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev.biophys.29.1.291","article-title":"Comparative protein structure modeling of genes and genomes","volume":"29","author":"Mart\u00ed-Renom","year":"2000","journal-title":"Annu Rev Biophys Biomol Struct"},{"key":"10.1016\/j.gim.2022.08.019_bib19","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/msb.2011.75","article-title":"Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega","volume":"7","author":"Sievers","year":"2011","journal-title":"Mol Syst Biol"},{"issue":"12","key":"10.1016\/j.gim.2022.08.019_bib20","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2020.101800","article-title":"Monoclonal anti-AMP antibodies are sensitive and valuable tools for detecting patterns of AMPylation","volume":"23","author":"H\u00f6pfner","year":"2020","journal-title":"iScience"},{"issue":"10","key":"10.1016\/j.gim.2022.08.019_bib21","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1002\/humu.22836","article-title":"Innovative genomic collaboration using the GENESIS (GEM.app) platform","volume":"36","author":"Gonzalez","year":"2015","journal-title":"Hum Mutat"},{"issue":"21","key":"10.1016\/j.gim.2022.08.019_bib22","doi-asserted-by":"crossref","DOI":"10.15252\/embj.2019102177","article-title":"An oligomeric state-dependent switch in the ER enzyme FICD regulates AMPylation and deAMPylation of BiP","volume":"38","author":"Perera","year":"2019","journal-title":"EMBO J"},{"issue":"12","key":"10.1016\/j.gim.2022.08.019_bib23","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1016\/j.str.2014.10.007","article-title":"Crystal structure of the human, FIC-domain containing protein HYPE and implications for its functions","volume":"22","author":"Bunney","year":"2014","journal-title":"Structure"},{"issue":"2","key":"10.1016\/j.gim.2022.08.019_bib24","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.molcel.2010.10.001","article-title":"Protein quality control in the cytosol and the endoplasmic reticulum: brothers in arms","volume":"40","author":"Buchberger","year":"2010","journal-title":"Mol Cell"},{"key":"10.1016\/j.gim.2022.08.019_bib25","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.ceb.2018.04.004","article-title":"Mechanistic insights into ER-associated protein degradation","volume":"53","author":"Wu","year":"2018","journal-title":"Curr Opin Cell Biol"},{"issue":"4","key":"10.1016\/j.gim.2022.08.019_bib26","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1016\/j.ajhg.2019.03.001","article-title":"Truncating mutations in UBAP1 cause hereditary spastic paraplegia","volume":"104","author":"Farazi Fard","year":"2019","journal-title":"Am J Hum Genet"},{"issue":"June 2021","key":"10.1016\/j.gim.2022.08.019_bib27","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.matbio.2020.11.003","article-title":"Protein quality control by the proteasome and autophagy: a regulatory role of ubiquitin and liquid-liquid phase separation","author":"Lei","year":"2021","journal-title":"Matrix Biol"},{"issue":"4","key":"10.1016\/j.gim.2022.08.019_bib28","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.3390\/ijms21041409","article-title":"Neuromuscular diseases due to chaperone mutations: a review and some new results","volume":"21","author":"Sarparanta","year":"2020","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.gim.2022.08.019_bib29","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.29428","article-title":"AMPylation targets the rate-limiting step of BiP\u2019s ATPase cycle for its functional inactivation","volume":"6","author":"Preissler","year":"2017","journal-title":"Elife"},{"issue":"3","key":"10.1016\/j.gim.2022.08.019_bib30","doi-asserted-by":"crossref","DOI":"10.1016\/j.isci.2020.100934","article-title":"A\u00a0cell- and tissue-specific weakness of the protein homeostasis system underlies brain vulnerability to protein aggregation","volume":"23","author":"Kundra","year":"2020","journal-title":"iScience"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360022009108?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360022009108?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:53:09Z","timestamp":1761097989000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360022009108"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":30,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["S1098360022009108"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2022.08.019","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2022.08.019","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}