Article
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.
The Journal of biological chemistry - 15 Feb 2002
Shieh Jeng-Jer, Terzioglu Mugen, Hiraiwa Hisayuki, Marsh Julia, Pan Chi-Jiunn, Chen Li-Yuan, Chou Janice Yang
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.