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
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
Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.
Zheng BX et al.
European Journal of Pediatrics, 2015
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
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
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
Seydewitz HH et al.
Human Mutation, 2000
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