Associated Papers
Structural basis of G6P/Pi transport and inhibition in SLC37A4.
Zhou D et al.
Nature Structural & Molecular Biology, 2026
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
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
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
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.
Chen SY et al.
Molecular Genetics and Metabolism, 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
Mutation spectrum of type I glycogen storage disease in Hungary.
Miltenberger-Miltenyi G et al.
Journal of Inherited Metabolic Disease, 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
The human sugar-phosphate/phosphate exchanger family SLC37.
Bartoloni L et al.
Pflugers Archiv : European Journal of Physiology, 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
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
Mutation analysis in glycogen storage disease type 1 non-a.
Janecke AR et al.
Human Genetics, 2000
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
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.
Hiraiwa H et al.
The Journal of Biological Chemistry, 1999