Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies
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COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi ProteinsA defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancyN-glycans in cell survival and death: cross-talk between glycosyltransferasesSynthesis of reference standards to enable single cell metabolomic studies of tetramethylrhodamine-labeled ganglioside GM1.Regulated and aberrant glycosylation modulate cardiac electrical signaling.A novel method of production and biophysical characterization of the catalytic domain of yeast oligosaccharyl transferaseInsights into complexity of congenital disorders of glycosylation.ST3GAL3 mutations impair the development of higher cognitive functions.CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutationsThe congenital disorders of glycosylation: a multifaceted group of syndromes.Identification of the first COG-CDG patient of Indian origin.Sialic acids attached to N- and O-glycans within the Nav1.4 D1S5-S6 linker contribute to channel gating.Rampant purifying selection conserves positions with posttranslational modifications in human proteinsPompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethalityReduced 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 GeneMolecular and clinical characterization of a Moroccan Cog7 deficient patientUltrafast and high-throughput N-glycan analysis for monoclonal antibodies.Life with too much polyprenol: polyprenol reductase deficiency.Heparan sulfate and syndecan-1 are essential in maintaining murine and human intestinal epithelial barrier functionSLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.The endothelial-specific regulatory mutation, Mvwf1, is a common mouse founder allele.Congenital protein hypoglycosylation diseases.Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease modelThe chemical neurobiology of carbohydratesMutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis.A developmental and genetic classification for midbrain-hindbrain malformations.Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation.Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.Biological roles of glycans.Dolichol phosphate mannose synthase: a Glycosyltransferase with Unity in molecular diversities.Pulmonary alveolar proteinosis in association with congenital dyserythropoietic anemia: a case report.News on Clinical Details and Treatment in PGM1-CDGMannosylphosphodolichol synthase overexpression supports angiogenesis.Sialic acids attached to O-glycans modulate voltage-gated potassium channel gating.Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.Cloning and expression of mannosylphospho dolichol synthase from bovine adrenal medullary capillary endothelial cells.Diseases of glycosylation
P2860
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P2860
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Congenital disorders of glycos ...... tations and specific therapies
@ast
Congenital disorders of glycos ...... tations and specific therapies
@en
Congenital disorders of glycos ...... tations and specific therapies
@nl
type
label
Congenital disorders of glycos ...... tations and specific therapies
@ast
Congenital disorders of glycos ...... tations and specific therapies
@en
Congenital disorders of glycos ...... tations and specific therapies
@nl
prefLabel
Congenital disorders of glycos ...... tations and specific therapies
@ast
Congenital disorders of glycos ...... tations and specific therapies
@en
Congenital disorders of glycos ...... tations and specific therapies
@nl
P1476
Congenital disorders of glycos ...... tations and specific therapies
@en
P2093
T Marquardt
P2888
P304
P356
10.1007/S00431-002-1136-0
P407
P577
2003-06-01T00:00:00Z
P5875
P6179
1075288630