Article
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
PloS one - 1 Jan 2015
Alsters Suzanne I M, Goldstone Anthony P, Buxton Jessica L, Zekavati Anna, Sosinsky Alona, Yiorkas Andrianos M, Holder Susan, Klaber Robert E, Bridges Nicola, van Haelst Mieke M, le Roux Carel W, Walley Andrew J, Walters Robin G, Mueller Michael, Blakemore Alexandra I F
Abstract excerpt
Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68). Analysis detected no CPE expression in whole blood-derived...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.