Article
In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes.
American journal of physiology. Endocrinology and metabolism - 1 Mar 2010
Rajan Sindhu, Eames Stefani C, Park Soo-Young, Labno Christine, Bell Graeme I, Prince Victoria E, Philipson Louis H
Abstract excerpt
Permanent neonatal diabetes mellitus is a rare form of insulin-requiring diabetes presenting within the first few weeks or months of life. Mutations in the insulin gene are the second most common cause of this form of diabetes. These mutations are located in critical regions of preproinsulin and are likely to prevent normal processing or folding of the preproinsulin/proinsulin molecule. To characterize these...
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