{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T16:59:47Z","timestamp":1760979587066},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,5,11]],"date-time":"2004-05-11T00:00:00Z","timestamp":1084233600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Heinrich Heine University D\u00fcsseldorf, Faculty of Medicine Research Grant","award":["9772157"],"award-info":[{"award-number":["9772157"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\u201cPelizaeus\u2013Merzbacher\u2010like syndrome\u201d is an undetermined leukodystrophy disorder of diffuse hypomyelination. The patients' clinical phenotype is indistinguishable from classical Pelizaeus\u2013Merzbacher disease (PMD), but the patients lack <jats:italic>PLP1<\/jats:italic> gene duplications or mutations. They represent about 20% of all cases with a clinical PMD phenotype. The <jats:italic>M6b<\/jats:italic> gene has been localized to Xp22.2. The encoded M6B protein is a member of a novel proteolipid family that also includes other major brain myelin components like the proteolipid protein (PLP). Recent cotransfection experiments suggest a protein\u2013protein interaction of M6B and mutant PLP1 that may contribute to oligodendrocyte dysfunction in PMD. Therefore, <jats:italic>M6b<\/jats:italic> has been considered a good candidate gene for Pelizaeus\u2013Merzbacher\u2010like syndrome. However, our molecular analyses in eight thoroughly characterized patients make it unlikely that mutations in this gene are involved in this subgroup of human hypomyelination disorders. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30068","type":"journal-article","created":{"date-parts":[[2004,5,11]],"date-time":"2004-05-11T16:02:05Z","timestamp":1084291325000},"page":"156-158","source":"Crossref","is-referenced-by-count":7,"title":["Mutation analysis of the <i>M6b<\/i> gene in patients with Pelizaeus\u2013Merzbacher\u2010like syndrome"],"prefix":"10.1002","volume":"128A","author":[{"given":"Marco","family":"Henneke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars\u2010Erik","family":"Wehner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans Christian","family":"Hennies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie","family":"Preu\u00df","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jutta","family":"G\u00e4rtner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,5,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.10.1210"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1089"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.3.824"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302483"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<165::AID-AJMG13>3.0.CO;2-L"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0231"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.9.e45"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394-257"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071420"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019052-200112000-00018"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1006\/mcne.2001.1044"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30068","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30068","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:15:22Z","timestamp":1700154922000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30068"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,11]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,7,15]]}},"alternative-id":["10.1002\/ajmg.a.30068"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30068","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,11]]}}}