GeneticsbioRxivPreprint
SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology
Taolin Yuan, Surinder Kumar, Mary E. Skinner…·David B. Lombard
The paper identifies two SIRT5 variants in mitochondrial disease patients that reduce protein stability and activity but not neuropathology, using biochemical and mouse model analyses.
DOI 10.1101/2023.12.06.570371