Article
A Family with Severe Insulin Resistance and Diabetes Due to a Mutation in <i>AKT2</i>
27 May 2004
Abstract excerpt
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...
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