Associated Papers
The induced-fit and catalytic mechanisms of human G6PC1.
Chen Q et al.
Cell Discovery, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 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
Integrative analysis of pathogenic variants in glucose-6-phosphatase based on an AlphaFold2 model.
Sinclair M et al.
Pnas Nexus, 2024
Molecular mechanisms of catalytic inhibition for active site mutations in glucose-6-phosphatase catalytic subunit 1 linked to glycogen storage disease.
Sinclair M et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Molecular diagnosis of glycogen storage disease type I: a review.
Beyzaei Z et al.
Excli Journal, 2019
Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
Mahmoud SK et al.
Journal of Genetics, 2017
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
Mutation spectrum of type I glycogen storage disease in Hungary.
Miltenberger-Miltenyi G et al.
Journal of Inherited Metabolic Disease, 2005
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D et al.
European Journal of Pediatrics, 2002
The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.
Ghosh A et al.
The Journal of Biological Chemistry, 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 mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
Kozák L et al.
Human Mutation, 2000