Article
A mutant form of PTEN linked to autism.
Protein science : a publication of the Protein Society - 1 Oct 2010
Redfern Roberta E, Daou Marie-Claire, Li Li, Munson Mary, Gericke Arne, Ross Alonzo H
Abstract excerpt
The tumor suppressor, phosphatase, and tensin homologue deleted on chromosome 10 (PTEN), is a phosphoinositide (PI) phosphatase specific for the 3-position of the inositol ring. PTEN has been implicated in autism for a subset of patients with macrocephaly. Various studies identified patients in this subclass with one normal and one mutated PTEN gene. We characterize the binding, structural properties, activity,...
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