Article
PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance.
Communications biology - 30 Oct 2020
Chhabra Nirav Florian, Amarie Oana Veronica, Wu Moya, Amend Anna-Lena, Rubey Marina, Gradinger Daniel, Irmler Martin, Beckers Johannes, Rathkolb Birgit, Wolf Eckhard, Feuchtinger Annette, Huypens Peter, Teperino Raffaele, Rozman Jan, Przemeck Gerhard K H, Hrabě de Angelis Martin
Abstract excerpt
The transcription factor PAX6 is involved in the development of the eye and pancreatic islets, besides being associated with sleep-wake cycles. Here, we investigated a point mutation in the RED subdomain of PAX6, previously described in a human patient, to present a comprehensive study of a homozygous Pax6 mutation in the context of adult mammalian metabolism and circadian rhythm. Pax6Leca2 mice lack appropriate...
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