Article
Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes.
Diabetes - 1 Apr 2012
Liu Ming, Lara-Lemus Roberto, Shan Shu-ou, Wright Jordan, Haataja Leena, Barbetti Fabrizio, Guo Huan, Larkin Dennis, Arvan Peter
Abstract excerpt
Recently, missense mutations upstream of preproinsulin's signal peptide (SP) cleavage site were reported to cause mutant INS gene-induced diabetes of youth (MIDY). Our objective was to understand the molecular pathogenesis using metabolic labeling and assays of proinsulin export and insulin and C-peptide production to examine the earliest events of insulin biosynthesis, highlighting molecular mechanisms...
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