{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T09:12:22Z","timestamp":1791191542520,"version":"4.1.0"},"reference-count":0,"publisher":"National Academy of Sciences","issue":"4","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1990,2]]},"abstract":"<jats:p>A small proteoglycan that contains only a single dermatan sulfate chain is the main proteoglycan synthesized by skin fibroblasts. Fibroblasts from a patient with progeroidal appearance and symptoms of the Ehlers-Danlos syndrome have a reduced ability of converting the core protein of this proteoglycan into a mature glycosaminoglycan chain-bearing species. This abnormality is the consequence of a deficiency in galactosyltransferase I (xylosylprotein 4-beta-galactosyltransferase; EC 2.4.1.133), which catalyzes the second glycosyl transfer reaction in the assembly of the dermatan sulfate chain. The glycosaminoglycan-free core protein secreted by the patient's fibroblasts bears an unsubstituted xylose residue. The mutant enzyme is abnormally thermolabile. Preincubation of fibroblasts at 41 degrees C leads to a further reduction in the production of mature proteoglycan and affects the capacity for glycosaminoglycan synthesis on p-nitrophenyl beta-D-xyloside more strongly in the mutant than in control cells.<\/jats:p>","DOI":"10.1073\/pnas.87.4.1342","type":"journal-article","created":{"date-parts":[[2006,5,31]],"date-time":"2006-05-31T07:33:14Z","timestamp":1149060794000},"page":"1342-1346","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":163,"title":["A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome."],"prefix":"10.1073","volume":"87","author":[{"given":"E","family":"Quentin","sequence":"first","affiliation":[{"name":"Institute of Physiological Chemistry and Pathobiochemistry, University of M\u00fcnster, Federal Republic of Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Gladen","sequence":"additional","affiliation":[{"name":"Institute of Physiological Chemistry and Pathobiochemistry, University of M\u00fcnster, Federal Republic of Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Rod\u00e9n","sequence":"additional","affiliation":[{"name":"Institute of Physiological Chemistry and Pathobiochemistry, University of M\u00fcnster, Federal Republic of Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Kresse","sequence":"additional","affiliation":[{"name":"Institute of Physiological Chemistry and Pathobiochemistry, University of M\u00fcnster, Federal Republic of Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1990,2]]},"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.87.4.1342","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T13:06:16Z","timestamp":1649855176000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.87.4.1342"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,2]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1990,2]]}},"alternative-id":["10.1073\/pnas.87.4.1342"],"URL":"https:\/\/doi.org\/10.1073\/pnas.87.4.1342","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,2]]},"assertion":[{"value":"1990-02-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}