{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T07:34:42Z","timestamp":1698132882360},"reference-count":0,"publisher":"Portland Press Ltd.","issue":"3","content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[1987,12,15]]},"abstract":"<jats:p>The size of the mutant N-acetylglucosamine 1-phosphotransferase in Golgi membranes from fibroblasts of patients with I-cell disease and classical pseudo-Hurler polydystrophy, which comprised one complementation group characterized by deficiency towards both artificial and natural acceptor substrates, was significantly smaller than the normal enzyme, 151-174 kDa compared with 225-278 kDa. The size of the mutant enzyme from cell lines of patients with variant forms of pseudo-Hurler polydystrophy, which comprised another complementation group characterized by normal activity towards mono- and oligo-saccharide substrates, was significantly larger than the normal enzyme, ranging from 321 to 356 kDa in two families and from 528 to 547 kDa in a third family. These findings suggest that the mutations in I-cell disease and classical pseudo-Hurler polydystrophy result in a missing enzyme component, which renders the enzyme catalytically inefficient toward any type of acceptor substrate. In contrast, the mutations in the variant forms of pseudo-Hurler polydystrophy produce a larger enzyme molecule which is active toward small substrates but is incapable of binding natural lysosomal glycoprotein substrates.<\/jats:p>","DOI":"10.1042\/bj2480697","type":"journal-article","created":{"date-parts":[[2015,8,10]],"date-time":"2015-08-10T21:09:18Z","timestamp":1439240958000},"page":"697-701","update-policy":"http:\/\/dx.doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Altered molecular size of <i>N<\/i>-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy"],"prefix":"10.1042","volume":"248","author":[{"given":"Y","family":"Ben-Yoseph","sequence":"first","affiliation":[{"name":"Biochemical Genetics Laboratory, C.S. Mott Center for Human Growth and Development, Departments of Pediatrics, Biochemistry and Obstetrics-Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Potier","sequence":"additional","affiliation":[{"name":"Section de G\u00e9n\u00e9tique M\u00e9dicale, Centre de Recherche P\u00e9diatrique, H\u00f4pital Sainte Justine, Universit\u00e9 de Montr\u00e9al, Montr\u00e9al, Qu\u00e9bec H3T 1C5, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D A","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory, C.S. 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Mott Center for Human Growth and Development, Departments of Pediatrics, Biochemistry and Obstetrics-Gynecology, Wayne State University School of Medicine, Detroit, MI 48201, U.S.A."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","container-title":["Biochemical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/biochemj\/article-pdf\/248\/3\/697\/592981\/bj2480697.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/biochemj\/article-pdf\/248\/3\/697\/592981\/bj2480697.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T18:08:53Z","timestamp":1637863733000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/biochemj\/article\/248\/3\/697\/24504\/Altered-molecular-size-of-N-acetylglucosamine-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,12,15]]},"references-count":0,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1987,12,15]]}},"URL":"https:\/\/doi.org\/10.1042\/bj2480697","relation":{},"ISSN":["0264-6021","1470-8728"],"issn-type":[{"value":"0264-6021","type":"print"},{"value":"1470-8728","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,12,15]]}}}