Article
Proinsulin misfolding and diabetes: mutant INS gene-induced diabetes of youth.
Trends in endocrinology and metabolism: TEM - 1 Nov 2010
Liu Ming, Hodish Israel, Haataja Leena, Lara-Lemus Roberto, Rajpal Gautam, Wright Jordan, Arvan Peter
Abstract excerpt
Type 1B diabetes (typically with early onset and without islet autoantibodies) has been described in patients bearing small coding sequence mutations in the INS gene. Not all mutations in the INS gene cause the autosomal dominant Mutant INS-gene Induced Diabetes of Youth (MIDY) syndrome, but most missense mutations affecting proinsulin folding produce MIDY. MIDY patients are heterozygotes, with the expressed...
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