| Literature DB >> 15166380 |
Stella George1, Justin J Rochford, Christian Wolfrum, Sarah L Gray, Sven Schinner, Jenny C Wilson, Maria A Soos, Peter R Murgatroyd, Rachel M Williams, Carlo L Acerini, David B Dunger, David Barford, A Margot Umpleby, Nicholas J Wareham, Huw Alban Davies, Alan J Schafer, Markus Stoffel, Stephen O'Rahilly, Inês Barroso.
Abstract
Inherited defects in signaling pathways downstream of the insulin receptor have long been suggested to contribute to human type 2 diabetes mellitus. Here we describe a mutation in the gene encoding the protein kinase AKT2/PKBbeta in a family that shows autosomal dominant inheritance of severe insulin resistance and diabetes mellitus. Expression of the mutant kinase in cultured cells disrupted insulin signaling to metabolic end points and inhibited the function of coexpressed, wild-type AKT. These findings demonstrate the central importance of AKT signaling to insulin sensitivity in humans.Entities:
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Year: 2004 PMID： 15166380 PMCID： PMC2258004 DOI： 10.1126/science.1096706
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728