Article
Selective proteasome degradation of C-terminally-truncated human WFS1 in pancreatic beta cells.
FEBS open bio - 1 Aug 2023
Tokuma Hiraku, Sakano Daisuke, Tanabe Katsuya, Tanizawa Yukio, Shiraki Nobuaki, Kume Shoen
Abstract excerpt
Wolfram syndrome is a monogenic disease mainly caused by mutations in the WFS1 gene. Mutations in the WFS1 gene give rise to diabetes. Here, we characterized mutant WFS1 proteins by studying the stability of full-length wild-type (WT) WFS1, a missense mutant P724L, and two C-terminally truncated mutants, W837X and Y652X. We compared their stability by overexpressing them in MIN6 and HEK293T cells. The...
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