A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
about
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-IcReduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylationMPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type IfDeficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type IeDolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1The accumulation of Man(6)GlcNAc(2)-PP-dolichol in the Saccharomyces cerevisiae Deltaalg9 mutant reveals a regulatory role for the Alg3p alpha1,3-Man middle-arm addition in downstream oligosaccharide-lipid and glycoprotein glycan processing.Insights into complexity of congenital disorders of glycosylation.Screening for "prelysosomal disorders": carbohydrate-deficient glycoprotein syndromes.Update and perspectives on congenital disorders of glycosylation.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.Congenital disorders of glycosylation: a review.Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 GeneMass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Monoglucosylated oligomannosides are released during the degradation process of newly synthesized glycoproteins.Traffic jams II: an update of diseases of intracellular transport.Ethanol-induced impairment in the biosynthesis of N-linked glycosylation.Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.CDG Therapies: From Bench to Bedside.Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population.
P2860
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P2860
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
description
1998 nî lūn-bûn
@nan
1998 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@ast
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@en
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@nl
type
label
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@ast
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@en
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@nl
prefLabel
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@ast
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@en
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@nl
P2093
P2860
P356
P1476
A novel carbohydrate-deficient ...... olichol-linked oligosaccharide
@en
P2093
P2860
P304
P356
10.1172/JCI2266
P407
P577
1998-08-01T00:00:00Z