A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
about
Reduced 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 IfCongenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferaseA new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesisA deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylationDeficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgDeficiency 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)Human RFT1 deficiency leads to a disorder of N-linked glycosylationA broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesDHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrateThe ins(ide) and out(side) of dolichyl phosphate biosynthesis and recycling in the endoplasmic reticulumThe 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.Analysis and metabolic engineering of lipid-linked oligosaccharides in glycosylation-deficient CHO cellsGenomic 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.Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.Congenital disorders of glycosylation: a review.Fibrotic response in fibroblasts from congenital disorders of glycosylation.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 GenePhysiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Drosophila, the golden bug, emerges as a tool for human genetics.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.Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.Generation and degradation of free asparagine-linked glycans.Traffic jams II: an update of diseases of intracellular transport.Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly.Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration.Defective ALG6 causes ALG6-CDG (CDG-1c)Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.Defective ALG6 does not add glucose to the N-glycan precursorSynthesis of dolichyl-phosphate-glucoseFlipping of dolichyl-phosphate-glucose into the ER lumenAddition of the first glucose to the N-glycan precursor by ALG6
P2860
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P2860
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic
description
1999 nî lūn-bûn
@nan
1999 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@ast
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@en
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@en-gb
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@nl
type
label
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@ast
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@en
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@en-gb
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@nl
prefLabel
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@ast
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@en
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@en-gb
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@nl
P2093
P2860
P921
P356
P1476
A mutation in the human orthol ...... glycoprotein syndrome type-Ic
@en
P2093
P2860
P304
P356
10.1073/PNAS.96.12.6982
P407
P577
1999-06-08T00:00:00Z