Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.
about
Blasts from the pastA novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharideCarbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapyDeficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type IeDolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesGlycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG)Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1Insights into complexity of congenital disorders of glycosylation.Carbohydrate-deficient glycoprotein syndromes.Update and perspectives on congenital disorders of glycosylation.Analysis of glycosylation in CDG-Ia fibroblasts by fluorophore-assisted carbohydrate electrophoresis: implications for extracellular glucose and intracellular mannose 6-phosphateCongenital disorders of glycosylation: glycosylation defects in man and biological models for their study.Neurology of inherited glycosylation disorders.The congenital disorders of glycosylation: a multifaceted group of syndromes.Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethalityPhosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.Regulation of the dolichol pathway in human fibroblasts by the endoplasmic reticulum unfolded protein response.Glycosylation diseases: quo vadis?Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.The metabolic origins of mannose in glycoproteins.Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.Biological roles of glycans.Human fibroblasts prefer mannose over glucose as a source of mannose for N-glycosylation. Evidence for the functional importance of transported mannose.Mannose enters mammalian cells using a specific transporter that is insensitive to glucose.Metformin-stimulated mannose transport in dermal fibroblasts.Analyses of dolichol pyrophosphate-linked oligosaccharides in cell cultures and tissues by fluorophore-assisted carbohydrate electrophoresis.Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.Defect of N-glycosylation is not directly related to congenital disorder of glycosylation Ia fibroblast sensitivity to staurosporine-induced cell death.Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).CDG Therapies: From Bench to Bedside.
P2860
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P2860
Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 1996
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Mannose corrects altered N-gly ...... oprotein syndrome fibroblasts.
@en
Mannose corrects altered N-gly ...... oprotein syndrome fibroblasts.
@nl
type
label
Mannose corrects altered N-gly ...... oprotein syndrome fibroblasts.
@en
Mannose corrects altered N-gly ...... oprotein syndrome fibroblasts.
@nl
prefLabel
Mannose corrects altered N-gly ...... oprotein syndrome fibroblasts.
@en
Mannose corrects altered N-gly ...... oprotein syndrome fibroblasts.
@nl
P2860
P356
P1476
Mannose corrects altered N-gly ...... oprotein syndrome fibroblasts.
@en
P2093
H H Freeze
K Panneerselvam
P2860
P304
P356
10.1172/JCI118570
P407
P577
1996-03-01T00:00:00Z