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

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 in...

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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2011
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3186416/
https://ncbi.nlm.nih.gov/pubmed/21784842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.222679
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