Associated Papers
Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.
Xia Z et al.
Nature Communications, 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
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.
Zhang B et al.
Clinical Rheumatology, 2016
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.
Jun HS et al.
Blood, 2014
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.
Carlin MP et al.
Genetics and Molecular Biology, 2013
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
Melis D et al.
European Journal of Pediatrics, 2005
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
Chen LY et al.
Human Molecular Genetics, 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
Glycogen storage disease type Ia: molecular study in Brazilian patients.
de C Reis F et al.
Journal of Human Genetics, 2001
Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.
Chen LY et al.
The Journal of Biological Chemistry, 2000
Glucose-6-phosphate transporter and receptor functions of the glucose 6-phosphatase system analyzed from a consensus defined by multiple alignments.
Méchin MC et al.
Proteins, 2000
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
Transmembrane topology of human glucose 6-phosphate transporter.
Pan CJ et al.
The Journal of Biological Chemistry, 1999
A novel mutation in a Brazilian patient with glycogen storage disease type 1a.
Sartorato EL et al.
Journal of Inherited Metabolic Disease, 1998