Article
Endocytosis of secreted carboxyl ester lipase in a syndrome of diabetes and pancreatic exocrine dysfunction.
The Journal of biological chemistry - 17 Oct 2014
Torsvik Janniche, Johansson Bente B, Dalva Monica, Marie Michaël, Fjeld Karianne, Johansson Stefan, Bjørkøy Geir, Saraste Jaakko, Njølstad Pål R, Molven Anders
Abstract excerpt
Maturity-onset diabetes of the young, type 8 (MODY8) is characterized by a syndrome of autosomal dominantly inherited diabetes and exocrine pancreatic dysfunction. It is caused by deletion mutations in the last exon of the carboxyl ester lipase (CEL) gene, resulting in a CEL protein with increased tendency to aggregate. In this study we investigated the intracellular distribution of the wild type (WT) and mutant...
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