Article
Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory capacity.
Proceedings of the National Academy of Sciences of the United States of America - 7 Aug 2018
Kleiner Sandra, Gomez Daniel, Megra Bezawit, Na Erqian, Bhavsar Ramandeep, Cavino Katie, Xin Yurong, Rojas Jose, Dominguez-Gutierrez Giselle, Zambrowicz Brian, Carrat Gaelle, Chabosseau Pauline, Hu Ming, Murphy Andrew J, Yancopoulos George D, Rutter Guy A, Gromada Jesper
Abstract excerpt
SLC30A8 encodes a zinc transporter that is primarily expressed in the pancreatic islets of Langerhans. In β-cells it transports zinc into insulin-containing secretory granules. Loss-of-function (LOF) mutations in SLC30A8 protect against type 2 diabetes in humans. In this study, we generated a knockin mouse model carrying one of the most common human LOF mutations for SLC30A8, R138X. The R138X mice had normal body...
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