Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.
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Human RFT1 deficiency leads to a disorder of N-linked glycosylationComparative analysis of Saccharomyces cerevisiae WW domains and their interacting proteins.ALG9 mannosyltransferase is involved in two different steps of lipid-linked oligosaccharide biosynthesis.Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.The Princeton Protein Orthology Database (P-POD): a comparative genomics analysis tool for biologistsAnalysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphateAn evolving view of the eukaryotic oligosaccharyltransferase.The congenital disorders of glycosylation: a multifaceted group of syndromes.Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG ILCommon variations in ALG9 are not associated with bipolar I disorder: a family-based study.Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.Evolutionarily conserved glycan signal to degrade aberrant brassinosteroid receptors in Arabidopsis.A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Further Delineation of the ALG9-CDG Phenotype.Congenital protein hypoglycosylation diseases.Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Congenital disorders of glycosylation and intellectual disability.Generation and degradation of free asparagine-linked glycans.Analysis of transcriptional profiles of Saccharomyces cerevisiae exposed to bisphenol A.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.ALG9-CDG: New clinical case and review of the literature.CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions.Defective ALG9 causes ALG9-CDG (CDG-1l)Defective ALG9 does not add the seventh mannose to the N-glycan precursorALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)6 (PP-Dol)1ALG9 transfers Man to N-glycan precursor (GlcNAc)2 (Man)8 (PP-Dol)1Congenital disorders of glycosylation: The Saudi experience.Defective ALG9 does not add the last mannose to the N-glycan precursor
P2860
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P2860
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.
description
2004 nî lūn-bûn
@nan
2004 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
name
Identification and functional ...... order of glycosylation type IL
@nl
Identification and functional ...... rder of glycosylation type IL.
@ast
Identification and functional ...... rder of glycosylation type IL.
@en
Identification and functional ...... rder of glycosylation type IL.
@en-gb
type
label
Identification and functional ...... order of glycosylation type IL
@nl
Identification and functional ...... rder of glycosylation type IL.
@ast
Identification and functional ...... rder of glycosylation type IL.
@en
Identification and functional ...... rder of glycosylation type IL.
@en-gb
prefLabel
Identification and functional ...... order of glycosylation type IL
@nl
Identification and functional ...... rder of glycosylation type IL.
@ast
Identification and functional ...... rder of glycosylation type IL.
@en
Identification and functional ...... rder of glycosylation type IL.
@en-gb
P2093
P2860
P356
P1476
Identification and functional ...... rder of glycosylation type IL.
@en
P2093
Christian G Frank
Claudia E Grubenmann
Eric G Berger
Markus Aebi
Thierry Hennet
Wafaa Eyaid
P2860
P304
P356
10.1086/422367
P407
P50
P577
2004-05-17T00:00:00Z