Article
The identification of Drp1 patient mutations that limit interactions with Mff.
Molecular biology of the cell - 1 Oct 2026
Buckley Yuli, Hutson Anelise N, Bauer Brianna L, Waiters Isaiah M, Liu Jasmine C, Cordero Dayanlee De León, Stoll Maria S K, Mears Jason A
Abstract excerpt
Patient mutations within Drp1, the master regulator of mitochondrial fission, lead to severe neurological defects and poor patient outcomes. Many of these mutations have been characterized as causing functional or assembly defects in Drp1, but our study highlights three mutations (G362S, E379K, and E410K) that do not have an apparent defect in core Drp1 functions. We investigated the possibility that these...
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- Humans
- Dynamins
- GTP Phosphohydrolases
- Mitochondrial Proteins
- Mutation
- Mitochondria