[HTML][HTML] The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase
JJ Shieh, M Terzioglu, H Hiraiwa, J Marsh… - Journal of Biological …, 2002 - ASBMB
Glycogen storage disease type 1a is caused by a deficiency in glucose-6-phosphatase
(G6Pase), a nine-helical endoplasmic reticulum transmembrane protein required for
maintenance of glucose homeostasis. To date, 75 G6Pase mutations have been identified,
including 48 mutations resulting in single-amino acid substitutions. However, only 19
missense mutations have been functionally characterized. Here, we report the results of
structure and function studies of the 48 missense mutations and the ΔF327 codon deletion …
(G6Pase), a nine-helical endoplasmic reticulum transmembrane protein required for
maintenance of glucose homeostasis. To date, 75 G6Pase mutations have been identified,
including 48 mutations resulting in single-amino acid substitutions. However, only 19
missense mutations have been functionally characterized. Here, we report the results of
structure and function studies of the 48 missense mutations and the ΔF327 codon deletion …