Article
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Diabetes - 1 Oct 2017
Hosoe Jun, Kadowaki Hiroko, Miya Fuyuki, Aizu Katsuya, Kawamura Tomoyuki, Miyata Ichiro, Satomura Kenichi, Ito Takeru, Hara Kazuo, Tanaka Masaki, Ishiura Hiroyuki, Tsuji Shoji, Suzuki Ken, Takakura Minaka, Boroevich Keith A, Tsunoda Tatsuhiko, Yamauchi Toshimasa, Shojima Nobuhiro, Kadowaki Takashi
Abstract excerpt
The insulin receptor (INSR) gene was analyzed in four patients with severe insulin resistance, revealing five novel mutations and a deletion that removed exon 2. A patient with Donohue syndrome (DS) had a novel p.V657F mutation in the second fibronectin type III domain (FnIII-2), which contains the α-β cleavage site and part of the insulin-binding site. The mutant INSR was expressed in Chinese hamster ovary...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.