Article
Structural and biophysical characterization of transcription factor HNF-1A as a tool to study MODY3 diabetes variants.
The Journal of biological chemistry - 1 Apr 2022
Kind Laura, Raasakka Arne, Molnes Janne, Aukrust Ingvild, Bjørkhaug Lise, Njølstad Pål Rasmus, Kursula Petri, Arnesen Thomas
Abstract excerpt
Hepatocyte nuclear factor 1A (HNF-1A) is a transcription factor expressed in several embryonic and adult tissues, modulating the expression of numerous target genes. Pathogenic variants in the HNF1A gene are known to cause maturity-onset diabetes of the young 3 (MODY3 or HNF1A MODY), a disease characterized by dominant inheritance, age of onset before 25 to 35 years of age, and pancreatic β-cell dysfunction. A...
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