Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
about
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfA new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesisOrganization of the human beta-1,2-N-acetylglucosaminyltransferase I gene (MGAT1), which controls complex and hybrid N-glycan synthesisDeficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgLack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1AA novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharideCarbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferaseMutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain developmentA broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesX-ray crystal structure of rabbit N-acetylglucosaminyltransferase I: catalytic mechanism and a new protein superfamilyCloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase IIA novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.Alpha1,6-fucosyltransferase-deficient mice exhibit multiple behavioral abnormalities associated with a schizophrenia-like phenotype: importance of the balance between the dopamine and serotonin systems.Cloning and expression of Drosophila melanogaster UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I.Protein glycosylation in development and disease.Carbohydrate deficient glycoprotein (CDG) syndrome type ICarbohydrate-deficient glycoprotein syndromes.Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).Update and perspectives on congenital disorders of glycosylation.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.Genetic defects in the human glycome.Concepts and principles of O-linked glycosylation.Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.Congenital disorders of glycosylation: a review.CDG nomenclature: time for a change!A comparison of N-glycan profiles in human plasma and vitreous fluid.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levelsA Gene of the β3-Glycosyltransferase Family Encodes N-Acetylglucosaminyltransferase II Function in Trypanosoma bruceiMannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.Mouse models for congenital disorders of glycosylation.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Biological roles of glycans.Expression of three Caenorhabditis elegans N-acetylglucosaminyltransferase I genes during development.Caenorhabditis elegans triple null mutant lacking UDP-N-acetyl-D-glucosamine:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I.A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.Null mutations in Drosophila N-acetylglucosaminyltransferase I produce defects in locomotion and a reduced life span.
P2860
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P2860
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Carbohydrate deficient glycopr ...... yl-glucosaminyltransferase II.
@ast
Carbohydrate deficient glycopr ...... yl-glucosaminyltransferase II.
@en
type
label
Carbohydrate deficient glycopr ...... yl-glucosaminyltransferase II.
@ast
Carbohydrate deficient glycopr ...... yl-glucosaminyltransferase II.
@en
prefLabel
Carbohydrate deficient glycopr ...... yl-glucosaminyltransferase II.
@ast
Carbohydrate deficient glycopr ...... yl-glucosaminyltransferase II.
@en
P2093
P2860
P356
P1476
Carbohydrate deficient glycopr ...... yl-glucosaminyltransferase II.
@en
P2093
P2860
P304
P356
10.1136/ADC.71.2.123
P407
P577
1994-08-01T00:00:00Z