Article
Rescue of MODY-1 by agonist ligands of hepatocyte nuclear factor-4alpha.
The Journal of biological chemistry - 20 Jun 2003
Hertz Rachel, Ben-Haim Nadav, Petrescu Anca D, Kalderon Bella, Berman Inna, Eldad Naama, Schroeder Friedhelm, Bar-Tana Jacob
Abstract excerpt
Missense mutations of the ligand binding domain of hepatocyte nuclear factor (HNF)-4alpha result in maturity onset diabetes of the young (MODY)-1. We show here that MODY-1 as well as Gln-185 missense mutants of the ligand binding domain of HNF-4alpha fail to transactivate transcription of HNF-4alpha-responsive genes. Defective transactivation by these mutants is accounted for by their reduced binding affinities...
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