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Oligosaccharides cont ain\u2010ing 2 GlcNAc residues and 3 to 9 mannose residues were liberated by mild acid hydrolysis. The oligosaccharide profile given by brain tissue from 2 patients with infantil e NCL was markedly different from that of late infantile and juvenile NCL brain, with Man<jats:sub>9<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub> as the most abundant component and decreasing amounts of Man<jats:sub>8<\/jats:sub>\u2010 Man<jats:sub>7<\/jats:sub>\u2010and Man<jats:sub>6<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub>. By contrast, Man<jats:sub>5<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub> was the most abundant oligosaccharide present in all juvenile NCL brain samples analyzed. Both the susceptibility of the isolated Man<jats:sub>5<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub> to endoglucosaminidase H digestion and permethylation analysis clearly indicated that it is not an intermediate in the biosynthesis of Glc<jats:sub>3<\/jats:sub>Man<jats:sub>9<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub>\u2010PP\u2010dolichol but has undergone catabolism, probably either in the endoplasmic reticulum or in the Golgi apparatus. Treatment of cultured skin fibroblasts for 7 days with N\u2010methyldeoxyno\u2010jirimycin, a potent inhibitor of the endoplasmic reticulum processing enzymes glucosidase I and II, resulted in an accumulation of the same Man<jats:sub>5<\/jats:sub>GlcNAc<jats:sub>2<\/jats:sub>\u2010PP\u2010dolichol species that was elevated in juvenile NCL brain. The level in untreated fibroblasts was undetectable, suggesting that inhibition of processing glu\u2010 cosidases has interfered with the regulation and compartmentalization of lipid\u2010linked oli\u2010gosaccharides.<\/jats:p>","DOI":"10.1002\/ajmg.1320420432","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:39:44Z","timestamp":1118497184000},"page":"586-592","source":"Crossref","is-referenced-by-count":12,"title":["Evidence for processing of dolichol\u2010linked oligosaccharides in patients with neuronal ceroid\u2010lipofuscinosis"],"prefix":"10.1002","volume":"42","author":[{"given":"Peter F.","family":"Daniel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derrick L.","family":"Sauls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rose\u2010Mary 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