Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.
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Odawara M, Kadowaki T, Yamamoto R, Shibasaki Y, Tobe K, Accili D, Bevins C, Mikami Y, Matsuura N, Akanuma Y, et al.
Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.
Science. 1989 Jul 7;245(4913):66-8.
- PubMed ID
- 2544998 [ View in PubMed]
- Abstract
Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site fo adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity.