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G6PC3 gene

Known as: G6Pase-BETA, UGRP, GLUCOSE-6-PHOSPHATASE, CATALYTIC, 3 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Testicular failure in a patient with G6PC3 deficiency
Background:Glucose-6-phosphatase-β (G6PC3) deficiency is characterized by congenital neutropenia and variable developmental… 
2014
2014
Glucose-6-Phosphatase: Novel Therapeutic Approaches for Type 2 Diabetes
The glucose 6-phosphatase (G6Pase) is an enzyme found in a number of tissues comprising liver, kidney, muscle and also in… 
2014
2014
Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines
Review
2014
Review
2014
Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia
The inherited bone marrow failure syndromes, like severe congenital neutropenia (SCN) and Shwachman–Diamond syndrome (SDS… 
2013
2013
P1086 Approche pharmacologique à l’aide d’un extrait naturel anti-hyperglycémique riche en acides caffeoyl-quiniques permettant de mettre en évidence l’implication de la glucose-6 phosphatase pancr…
Review
2013
Review
2013
A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family
Patients with autosomal recessive cyclic neutropenia have no known causative genetic defect yet. Autozygosity mapping on two… 
2011
2011
Functional analysis of the 5' flanking region of the human G6PC3 gene: regulation of promoter activity by glucose, pyruvate, AMP kinase and the pentose phosphate pathway.
2010
2010
Cardiac and Renal Malformations in a Patient with Sepsis and Severe Congenital Neutropenia
Background G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset… 
2007
2007
Coupling of glucose response element from L-type pyruvate kinase and G6Pase promoter enhances glucose responsive activity in hepatoma cells
Type 1 diabetes results from the autoimmune destruction of pancreatic β-cells, which leads to severe insulin deficiency. Insulin… 
2001
2001
Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia
Glycogen storage disease type Ia (GSD Ia; von Gierke Disease; McKusick 232200) is an autosomal recessive inborn error of… 
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