Article
Structural Lessons From the Mutant Proinsulin Syndrome.
Frontiers in endocrinology - 1 Jan 2021
Dhayalan Balamurugan, Chatterjee Deepak, Chen Yen-Shan, Weiss Michael A
Abstract excerpt
Insight into folding mechanisms of proinsulin has been provided by analysis of dominant diabetes-associated mutations in the human insulin gene (INS). Such mutations cause pancreatic β-cell dysfunction due to toxic misfolding of a mutant proinsulin and impairment in trans of wild-type insulin secretion. Anticipated by the "Akita" mouse (a classical model of monogenic diabetes mellitus; DM), this syndrome...
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