[HTML][HTML] Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b
H Hiraiwa, CJ Pan, B Lin, SW Moses… - Journal of Biological …, 1999 - ASBMB
Glycogen storage disease type 1b (GSD-1b) is proposed to be caused by a deficiency in
microsomal glucose 6-phosphate (G6P) transport, causing a loss of glucose-6-phosphatase
activity and glucose homeostasis. However, for decades, this disorder has defied molecular
characterization. In this study, we characterize the structural organization of the G6P
transporter gene and identify mutations in the gene that segregate with the GSD-1b disorder.
We report the functional characterization of the recombinant G6P transporter and …
microsomal glucose 6-phosphate (G6P) transport, causing a loss of glucose-6-phosphatase
activity and glucose homeostasis. However, for decades, this disorder has defied molecular
characterization. In this study, we characterize the structural organization of the G6P
transporter gene and identify mutations in the gene that segregate with the GSD-1b disorder.
We report the functional characterization of the recombinant G6P transporter and …