Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase
about
A 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 glycosylationSemi-automated identification of N-Glycopeptides by hydrophilic interaction chromatography, nano-reverse-phase LC-MS/MS, and glycan database searchWrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.The fine structure of Caenorhabditis elegans N-glycans.Transposon mutagenesis of Trypanosoma brucei identifies glycosylation mutants resistant to concanavalin A.The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation processRole of an ER stress response element in regulating the bidirectional promoter of the mouse CRELD2 - ALG12 gene pair.Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.An evolving view of the eukaryotic oligosaccharyltransferase.The congenital disorders of glycosylation: a multifaceted group of syndromes.Fibrotic response in fibroblasts from congenital disorders of glycosylation.Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.Congenital protein hypoglycosylation diseases.A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityCardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Coupling of the dolichol-P-P-oligosaccharide pathway to translation by perturbation-sensitive regulation of the initiating enzyme, GlcNAc-1-P transferase.Generation and degradation of free asparagine-linked glycans.Immunological aspects of congenital disorders of glycosylation (CDG): a review.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Characterization of the 5'-flanking region of the mouse asparagine-linked glycosylation 12 homolog gene.Brefeldin A promotes the appearance of oligosaccharyl phosphates derived from Glc3Man9GlcNAc2-PP-dolichol within the endomembrane system of HepG2 cells.Defective ALG12 causes ALG12-CDG (CDG-1g)Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.Defective ALG12 does not add mannose to the N-glycan precursorALG12 transfers Man to N-glycan precursor (GlcNAc)2 (Man)7 (PP-Dol)1
P2860
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P2860
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase
description
2002 nî lūn-bûn
@nan
2002 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հուլիսին 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
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@ast
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@en
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@en-gb
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@nl
type
label
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@ast
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@en
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@en-gb
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@nl
prefLabel
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@ast
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@en
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@en-gb
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
Congenital disorders of glycos ...... P-dolichyl mannosyltransferase
@en
P2093
Anne Barnier
Aude Charollais
Christophe Delenda
Delphine Heron
Geneviève Durand
Julia Dancourt
Olivier Danos
Rafael Oriol
Stuart E H Moore
Stéphanie Bucher
P2860
P304
P3181
P356
10.1074/JBC.M203285200
P407
P577
2002-07-12T00:00:00Z