The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

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http://www.wikidata.org/entity/Q43819811
Glucose-6-phosphatase deficiencyFunctional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiencycAMP response element binding protein (CREB) activates transcription via two distinct genetic elements of the human glucose-6-phosphatase geneTophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature reviewHistidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysisGlycogen storage disease type I and G6Pase-β deficiency: etiology and therapyModeling inherited metabolic disorders of the liver using human induced pluripotent stem cells.Downregulation of SIRT1 signaling underlies hepatic autophagy impairment in glycogen storage disease type Ia.A retrospective review of the roles of multifunctional glucose-6-phosphatase in blood glucose homeostasis: Genesis of the tuning/retuning hypothesis.The islet-specific glucose-6-phosphatase-related protein, implicated in diabetes, is a glycoprotein embedded in the endoplasmic reticulum membrane.Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage diseaseType I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.Liver glucose-6-phosphatase proteins in suckling and weaned grey seal pups: structural similarities to other mammals and relationship to nutrition, insulin signalling and metabolite levels.A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia.In vitro differentiated adult human liver progenitor cells display mature hepatic metabolic functions: a potential tool for in vitro pharmacotoxicological testing.
P2860

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

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http://www.wikidata.org/entity/Q43819811
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2001 nî lūn-bûn
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2001年の論文
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2001年学术文章
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2001年学术文章
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2001年学术文章
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2001年學術文章
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name
The molecular basis of glycoge ...... ions in glucose-6-phosphatase.
@en
The molecular basis of glycoge ...... ions in glucose-6-phosphatase.
@nl
type
label
The molecular basis of glycoge ...... ions in glucose-6-phosphatase.
@en
The molecular basis of glycoge ...... ions in glucose-6-phosphatase.
@nl
prefLabel
The molecular basis of glycoge ...... ions in glucose-6-phosphatase.
@en
The molecular basis of glycoge ...... ions in glucose-6-phosphatase.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P356
P1433
P1476
The molecular basis of glycoge ...... ions in glucose-6-phosphatase.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698