Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
about
COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi ProteinsDeficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgImpairment of skin wound healing in beta-1,4-galactosyltransferase-deficient mice with reduced leukocyte recruitmentGene-network analysis identifies susceptibility genes related to glycobiology in autismExpression patterns and action analysis of genes associated with blood coagulation responses during rat liver regenerationThe congenital disorders of glycosylation: a multifaceted group of syndromes.Genetic defects in the human glycome.Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.Development of immunoglobulin A nephropathy- like disease in beta-1,4-galactosyltransferase-I-deficient micePhysiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.Structure and function of beta -1,4-galactosyltransferaseGolgi function and dysfunction in the first COG4-deficient CDG type II patientGlycosylation in immune cell trafficking.A developmental and genetic classification for midbrain-hindbrain malformations.Golgi glycosylation and human inherited diseases.Functional organization of Golgi N- and O-glycosylation pathways involves pH-dependent complex formation that is impaired in cancer cells.B4GALT1 gene knockdown inhibits the hedgehog pathway and reverses multidrug resistance in the human leukemia K562/adriamycin-resistant cell line.Functional analysis of Drosophila beta1,4-N-acetlygalactosaminyltransferases.Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)Downregulation of β1,4-galactosyltransferase 5 improves insulin resistance by promoting adipocyte commitment and reducing inflammation.Defective B4GALT1 does not transfer Gal to the keratan chainDefective B4GALT1 does not add Gal to N-glycanB4GALTs transfer Gal to the N-glycan precursorB4GALTs transfer Gal to the keratan chainB4GALTs transfer Gal to a branch of keratanAddition of galactose by beta 4-galactosyltransferasesA new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.Defective B4GALT1 does not transfer Gal to the N-glycan precursorDefective B4GALT1 does not transfer Gal to a branch of keratanDefective B4GALT1 causes B4GALT1-CDG (CDG-2d)_R-HSA-3781860
P2860
Q24306195-4879D351-1FD6-4F9B-B487-934A62ACB1E2Q24534595-6A1BA506-8717-4C7C-BE3B-7B80AE7C96C2Q28513469-E9FFC6CE-F975-434C-9753-14A59D5FFC22Q33459263-748DF267-BAF9-48FB-8748-0D087C1FA420Q33866318-55CB0F05-2DD1-474F-A356-A8AE68110CD7Q34504298-285BE3E0-E816-48D5-9FB3-46C38D3762E6Q34534962-117D96E3-4618-413A-B973-FB594DD46213Q34675932-F753CE5F-CCDB-4B2A-93E5-1C486DA4F603Q35750178-4FD01EE3-FE91-48D8-9432-0AB95C2EBB35Q35981911-187D8239-CF73-44B2-AF7A-41C2BDE1B7EBQ36369946-342C87CD-F5DD-430B-8940-09A231F34D1DQ36627413-25678ACC-EBCF-4553-B1A5-75E74CB619E0Q37295069-F150FAB1-9178-4FE9-B300-678A6ACB334FQ37349468-7AD6C4DF-A5DA-4BF5-AB05-4A533394597AQ37472322-08565F2C-3724-4E4E-A482-90F2DE319086Q37895036-B2EE8489-3452-400A-AF84-30B99BFC1FADQ38928327-BF559673-5298-46DB-82B8-E97F8667DD10Q39268689-132F1EA9-229B-4156-AF48-C68B184B5614Q45162691-FD01D80B-34E2-4B31-B424-3E0FF5A2F87BQ45316519-7CCD78DC-9A04-450A-86B2-4AAEE20C663CQ50130176-F432F38E-BA63-4B17-962A-7D42518A38EEQ50289199-4685EB17-44F4-46AB-8828-077171E87E61Q50289223-0E7F2EBA-A7A0-4DEC-B16E-ABD6F8F29B8EQ50293241-F17EF66D-3FC0-46AA-9B55-6FC25F16D7ACQ50293245-37004A8D-1E9F-4AEB-A127-13F524254A40Q50293246-E581DD48-9216-4170-AC15-860C366FD522Q50296345-DBF0D2E7-6A8A-495F-9431-053382EC3A2CQ50595927-0D2CA98A-589B-4998-82E8-B187EE872844Q55214624-FA5F2A5F-12C5-407C-86BB-197B296F3EDEQ55214625-235FAB2D-CB6E-4A1A-95BD-5F6BDE46393CQ56860931-76C4BCD6-8164-4E9F-82D4-C499FEBC3D69
P2860
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.
description
2002 nî lūn-bûn
@nan
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մարտին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@ast
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@en
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@nl
type
label
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@ast
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@en
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@nl
prefLabel
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@ast
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@en
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@nl
P2093
P2860
P921
P356
P1476
Deficiency of UDP-galactose:N- ...... der of glycosylation type IId.
@en
P2093
Bengt Hansske
Christian Körner
Christian Thiel
Eric G Berger
Georg F Hoffmann
Martin Hasilik
Peter H Heidemann
Stefan Höning
Torben Lübke
Verena Peters
P2860
P304
P356
10.1172/JCI0214010
P407
P577
2002-03-01T00:00:00Z