Article
Congenital insulin resistance associated with a conformational alteration in a conserved beta-sheet in the insulin receptor L1 domain.
The Journal of biological chemistry - 25 Jun 1999
Rouard M, Bass J, Grigorescu F, Garrett T P, Ward C W, Lipkind G, Jaffiole C, Steiner D F, Bell G I
Abstract excerpt
The hormone binding site of members of the insulin receptor family is contained within a highly conserved extracellular region of the receptor. Recent crystallization of the N-terminal region of the binding site revealed two large domains (L1, L2), each organized as a single-stranded right-handed beta-helix, connected by a rod-shaped cysteine-rich domain. Here, we analyze two new naturally occurring mutations in...
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