Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
about
A novel GDP-D-glucose phosphorylase involved in quality control of the nucleoside diphosphate sugar pool in Caenorhabditis elegans and mammalsCongenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyFatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylationSRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderA missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi JewsNew horizons for congenital myasthenic syndromesGlycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatmentAutosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylationMetabolic manipulation of glycosylation disorders in humans and animal modelsOxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteinsEvolutional and clinical implications of the epigenetic regulation of protein glycosylation.Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.DPAGT1 myasthenia and myopathy: genetic, phenotypic, and expression studies.Insights into complexity of congenital disorders of glycosylation.O-GlcNAc-specific antibody CTD110.6 cross-reacts with N-GlcNAc2-modified proteins induced under glucose deprivation.Proteome-wide analysis of single-nucleotide variations in the N-glycosylation sequon of human genesNeurology of inherited glycosylation disorders.Distribution of events of positive selection and population differentiation in a metabolic pathway: the case of asparagine N-glycosylation.Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid.Identification of the first COG-CDG patient of Indian origin.29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeGenetic defects in dolichol metabolism.Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation.A glycogene mutation map for discovery of diseases of glycosylation.Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells.Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.Mature N-linked glycans facilitate UT-A1 urea transporter lipid raft compartmentalization.Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum.At the membrane frontier: a prospectus on the remarkable evolutionary conservation of polyprenols and polyprenyl-phosphates.Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor.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 GeneA Genome-wide CRISPR Screen in Primary Immune Cells to Dissect Regulatory NetworksThe mevalonate pathway in C. elegans.N-glycosylation is essential for ileal ASBT function and protection against proteases.Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Glycoforms of UT-A3 urea transporter with poly-N-acetyllactosamine glycosylation have enhanced transport activity.A sensitive green fluorescent protein biomarker of N-glycosylation site occupancyA zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.
P2860
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P2860
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Congenital disorders of glycos ...... ichol-linked oligosaccharides.
@ast
Congenital disorders of glycos ...... ichol-linked oligosaccharides.
@en
type
label
Congenital disorders of glycos ...... ichol-linked oligosaccharides.
@ast
Congenital disorders of glycos ...... ichol-linked oligosaccharides.
@en
prefLabel
Congenital disorders of glycos ...... ichol-linked oligosaccharides.
@ast
Congenital disorders of glycos ...... ichol-linked oligosaccharides.
@en
P921
P356
P1433
P1476
Congenital disorders of glycos ...... ichol-linked oligosaccharides.
@en
P2093
Micha A Haeuptle
Thierry Hennet
P304
P356
10.1002/HUMU.21126
P577
2009-12-01T00:00:00Z