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A novel GDP-D-glucose phosphorylase involved in quality control of the nucleoside diphosphate sugar pool in Caenorhabditis elegans and mammalsGABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gatingCongenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyCyclic nucleotide-gated channel subunit glycosylation regulates matrix metalloproteinase-dependent changes in channel gatingControl of mucin-type O-glycosylation: a classification of the polypeptide GalNAc-transferase gene familyInfection, inflammation and host carbohydrates: a Glyco-Evasion HypothesisThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyALG8-CDG: novel patients and review of the literature.Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients.Insights into complexity of congenital disorders of glycosylation.Characterization of kallikrein-related peptidase 4 glycosylationsSalinity-induced anti-angiogenesis activities and structural changes of the polysaccharides from cultured Cordyceps Militaris.A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDGMass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient.Distribution of events of positive selection and population differentiation in a metabolic pathway: the case of asparagine N-glycosylation.Synthesis, Processing, and Function of N-glycans in N-glycoproteins.Sialic acids attached to N- and O-glycans within the Nav1.4 D1S5-S6 linker contribute to channel gating.The effect of malnutrition on protein glycosylation in childrenGlycan structures contain information for the spatial arrangement of glycoproteins in the plasma membrane.A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusionPhosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.Evaluation of a combined glycomics and glycoproteomics approach for studying the major glycoproteins present in biofluids: Application to cerebrospinal fluid.Enhanced Aromatic Sequons Increase Oligosaccharyltransferase Glycosylation Efficiency and Glycan Homogeneity.Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.The Drosophila neurally altered carbohydrate mutant has a defective Golgi GDP-fucose transporterA sensitive green fluorescent protein biomarker of N-glycosylation site occupancyOverexpression and β-1,6-N-acetylglucosaminylation-initiated aberrant glycosylation of TIMP-1: a "double whammy" strategy in colon cancer progressionDevelopment of a hydrophilic interaction liquid chromatography coupled with matrix-assisted laser desorption/ionization-mass spectrometric imaging platform for N-glycan relative quantitation using stable-isotope labeled hydrazide reagents.Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.Lymphatic edema in congenital disorders of glycosylation.A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.Known and potential roles of transferrin in iron biology.Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)Cardiac involvement in hereditary ataxiasHuman plasma protein N-glycosylation
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on December 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Congenital disorders of glycosylation.
@en
type
label
Congenital disorders of glycosylation.
@en
prefLabel
Congenital disorders of glycosylation.
@en
P1476
Congenital disorders of glycosylation.
@en
P2093
Jaak Jaeken
P304
P356
10.1111/J.1749-6632.2010.05840.X
P407
P577
2010-12-01T00:00:00Z