{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:11:29Z","timestamp":1789780289767,"version":"4.0.1"},"reference-count":5,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T00:00:00Z","timestamp":1692403200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["jbc.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Biological Chemistry"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.jbc.2023.105180","type":"journal-article","created":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T19:01:08Z","timestamp":1694458868000},"page":"105180","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"title":["The role of PMP22 T118M in Charcot\u2013Marie\u2013Tooth disease remains unsolved"],"prefix":"10.1016","volume":"299","author":[{"given":"Christopher J.","family":"Record","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Laura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander M.","family":"Rossor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jbc.2023.105180_bib1","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2022.102839","article-title":"How T118M peripheral myelin protein 22 predisposes humans to Charcot\u2013Marie\u2013Tooth disease","volume":"299","author":"Stefanski","year":"2023","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.jbc.2023.105180_bib2","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1002\/ana.20777","article-title":"T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy","volume":"59","author":"Shy","year":"2006","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.jbc.2023.105180_bib3","article-title":"A\u00a0genome-wide mutational constraint map quantified from variation in 76,156 human genomes","author":"Chen","year":"2022","journal-title":"bioRxiv"},{"key":"10.1016\/j.jbc.2023.105180_bib4","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/s41582-019-0254-5","article-title":"Next-generation sequencing in Charcot\u2013Marie\u2013Tooth disease: opportunities and challenges","volume":"15","author":"Pipis","year":"2019","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.jbc.2023.105180_bib5","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/ng0197-13","article-title":"PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?","volume":"15","author":"Nelis","year":"1997","journal-title":"Nat. Genet."}],"container-title":["Journal of Biological Chemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925823022081?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0021925823022081?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T00:48:38Z","timestamp":1758242918000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0021925823022081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":5,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S0021925823022081"],"URL":"https:\/\/doi.org\/10.1016\/j.jbc.2023.105180","relation":{},"ISSN":["0021-9258"],"issn-type":[{"value":"0021-9258","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The role of PMP22 T118M in Charcot\u2013Marie\u2013Tooth disease remains unsolved","name":"articletitle","label":"Article Title"},{"value":"Journal of Biological Chemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jbc.2023.105180","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.jbc.2022.102839","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc on behalf of American Society for Biochemistry and Molecular Biology.","name":"copyright","label":"Copyright"}],"article-number":"105180"}}