Associated Papers
Structural insight into the glucose-6-phosphate transport by G6PT1 and inhibition mechanism of CGA.
Chen Q et al.
Science Advances, 2026
Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.
Xia Z et al.
Nature Communications, 2025
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.
Shao YX et al.
Orphanet Journal of Rare Diseases, 2024
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Wang Z et al.
The Journal of International Medical Research, 2023
Molecular biology and gene therapy for glycogen storage disease type Ib.
Chou JY et al.
Journal of Inherited Metabolic Disease, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib.
Pan CJ et al.
Molecular Genetics and Metabolism, 2009
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.
Melis D et al.
The Journal of Pediatrics, 2007
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
Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.
Almqvist J et al.
Biochemistry, 2004
Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.
Trioche P et al.
Journal of Inherited Metabolic Disease, 2004
Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.
Chen LY et al.
Human Molecular Genetics, 2002
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D et al.
European Journal of Pediatrics, 2002
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
Veiga-da-Cunha M et al.
European Journal of Human Genetics : Ejhg, 1999
Transmembrane topology of human glucose 6-phosphate transporter.
Pan CJ et al.
The Journal of Biological Chemistry, 1999