Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
about
Glucose-6-phosphatase deficiencyTransmembrane topology of human glucose 6-phosphate transporterFunctional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiencySequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type IbMutation analysis in 24 French patients with glycogen storage disease type 1a.Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11qThe glucose-6-phosphatase systemThe gene for glycogen-storage disease type 1b maps to chromosome 11q23.A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1aLack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndromeG6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunctionA syndrome with congenital neutropenia and mutations in G6PC3Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locusExon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in JapanThe SLC37 family of sugar-phosphate/phosphate exchangersLiver transplantation in glycogen storage disease type ICrystal structure of lipid phosphatase Escherichia coli phosphatidylglycerophosphate phosphatase BEnzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP)Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysisGlycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studiesGlucose-6-phosphatase catalytic subunit gene familyTransmembrane topology of glucose-6-phosphataseCloning and sequencing of the 5' region of the human glucose-6-phosphatase gene: transcriptional regulation by cAMP, insulin and glucocorticoids in H4IIE hepatoma cellsAsparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphataseGlycogen storage disease type I and G6Pase-β deficiency: etiology and therapyA potential new role for muscle in blood glucose homeostasisCloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodentsMammalian lipid phosphate phosphohydrolasesIdentification and characterisation of a new human glucose-6-phosphatase isoformThe molecular background of glycogen metabolism disorders.Crystal structure and biochemical characterization of the transmembrane PAP2 type phosphatidylglycerol phosphate phosphatase from Bacillus subtilis.Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).Identification of protein components of the microsomal glucose 6-phosphate transporter by photoaffinity labelling.Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropeniaA clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.New lessons in the regulation of glucose metabolism taught by the glucose 6-phosphatase system.
P2860
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P2860
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
description
1993 nî lūn-bûn
@nan
1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@ast
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@en
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@en-gb
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@nl
type
label
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@ast
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@en
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@en-gb
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@nl
prefLabel
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@ast
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@en
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@en-gb
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@nl
P2093
P921
P356
P1433
P1476
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
@en
P2093
P356
10.1126/SCIENCE.8211187
P407
P577
1993-10-22T00:00:00Z