Associated Papers
The induced-fit and catalytic mechanisms of human G6PC1.
Chen Q et al.
Cell Discovery, 2025
Structural insights into glucose-6-phosphate recognition and hydrolysis by human G6PC1.
Xia Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
In islet-specific glucose-6-phosphatase-related protein, the beta cell antigenic sequence that is targeted in diabetes is not responsible for the loss of phosphohydrolase activity.
Shieh JJ et al.
Diabetologia, 2005
Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.
Angaroni CJ et al.
Molecular Genetics and Metabolism, 2004
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D et al.
European Journal of Pediatrics, 2002
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
Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).
Wu MC et al.
Human Mutation, 2000
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