Article
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.
The Journal of biological chemistry - 7 Oct 2011
Johansson Bente B, Torsvik Janniche, Bjørkhaug Lise, Vesterhus Mette, Ragvin Anja, Tjora Erling, Fjeld Karianne, Hoem Dag, Johansson Stefan, Ræder Helge, Lindquist Susanne, Hernell Olle, Cnop Miriam, Saraste Jaakko, Flatmark Torgeir, Molven Anders, Njølstad Pål R
Abstract excerpt
CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL). As Cel knock-out mice do not express the phenotype and the mutant protein has an altered and intrinsically disordered tandem repeat domain, we hypothesized that the disease mechanism might involve a negative...
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