Article
Mutation in a conserved motif next to the insulin receptor key autophosphorylation sites de-regulates kinase activity and impairs insulin action.
The Journal of biological chemistry - 5 Mar 1993
Formisano P, Sohn K J, Miele C, Di Finizio B, Petruzziello A, Riccardi G, Beguinot L, Beguinot F
Abstract excerpt
We have recently reported two non-insulin-dependent diabetic patients exhibiting a heterozygous point mutation (R1152-Q) next to the key tyrosine autophosphorylation sites (Y1146, Y1150, Y1151) of the insulin receptor. In the present study, we demonstrate that the Q1152 mutation alters a previously unrecognized consensus sequence in the insulin receptor family of tyrosine kinases. To define the effect of this...
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