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Article

Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport.

PloS one - 11 Oct 2010

Liu Ming, Haataja Leena, Wright Jordan, Wickramasinghe Nalinda P, Hua Qing-Xin, Phillips Nelson F, Barbetti Fabrizio, Weiss Michael A, Arvan Peter

Abstract excerpt

Recently, a syndrome of Mutant INS-gene-induced Diabetes of Youth (MIDY, derived from one of 26 distinct mutations) has been identified as a cause of insulin-deficient diabetes, resulting from expression of a misfolded mutant proinsulin protein in the endoplasmic reticulum (ER) of insulin-producing pancreatic beta cells. Genetic deletion of one, two, or even three alleles encoding insulin in mice does not...

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Identifiers

PMID: 20948967
DOI: 10.1371/journal.pone.0013333
PMCID: PMC2952628

Genes

INS

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