Associated Papers
Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells.
Cao J et al.
Amino Acids, 2023
An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type Ia.
Zhang L et al.
Journal of Inherited Metabolic Disease, 2019
Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.
Boortz KA et al.
Plos One, 2016
27611587 (PubMed )
Supplement: pone.0162439.s002.pdf
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.
Mühlhausen C et al.
Journal of Inherited Metabolic Disease, 2005
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.
Shieh JJ et al.
The Journal of Biological Chemistry, 2002
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
Rake JP et al.
European Journal of Pediatrics, 2000
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Stroppiano M et al.
Journal of Inherited Metabolic Disease, 1999
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