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PubMed 15958417 Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies. The Large(myd) mouse has a loss-of-function mutation in the putative glycosyltransferase gen 1.83 KB 2019-05-30 50 0
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PubMed 15987957 Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. Hereditary inclusion body myopathy (HI 1.7 KB 2018-03-09 54 0
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PubMed 16037488 Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Untreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] def 920 Bytes 2019-05-30 50 0
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PubMed 16037491 Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. Defects in the biosynthesis of N- and core 1 O-glycans may be found by isoele 1.88 KB 2019-05-30 68 0
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PubMed 16079417 Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. Patients with Type I congenital disorders of glycosylation (CDG-I) make incom 1.92 KB 2019-05-30 50 0
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PubMed 16574813 Ganglioside GM3 modulates tumor suppressor PTEN-mediated cell cycle progression--transcriptional induction of p21(WAF1) and p27(kip1) by inhibition of PI-3K/AKT pathway. The simple ganglioside GM3 has 2.21 KB 2019-05-30 69 0
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PubMed 16691498 Lactosylceramide is required in apoptosis induced by N-Smase. Lactosylceramide (LacCer) is a member of the glycosphingolipid family which has been recently recognized as a signaling intermediate in th 1.73 KB 2019-05-30 41 0
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PubMed 16192407 Phenotypic changes induced by expression of beta-galactoside alpha2,6 sialyltransferase I in the human colon cancer cell line SW948. Beta-galactoside alpha2,6 sialyltransferase (ST6Gal.I), the enzyme 1.83 KB 2019-05-30 53 0
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PubMed 16311883 Serum hyaluronidase aberrations in metabolic and morphogenetic disorders. Hyaluronidases are endo-glycosidases that degrade both hyaluronan (hyaluronic acid) (HA) and chondroitin sulfates. Deficiency 2.08 KB 2019-05-30 46 0
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PubMed 16361247 Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement. Sialidosis and galactosialidosis are lysosomal storage 1.76 KB 2019-05-30 55 0
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