Article

<i>SIRT5</i> variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology

2023-12-08

Abstract excerpt

<h4>Summary</h4> SIRT5 is a sirtuin deacylase that represents the major activity responsible for removal of negatively-charged lysine modifications, in the mitochondrial matrix and elsewhere in the cell. In benign cells and mouse models, under basal non-stressed conditions, the phenotypes of SIRT5 deficiency are generally quite subtle. Here, we identify two homozygous SIRT5 variants in human patients suffering f...

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Literature Corpus work: 289c83bd-1c06-584d-9a12-71aad5cdd410
DOI: 10.1101/2023.12.06.570371

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<i>SIRT5</i> variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathologyDOI 10.1101/2023.12.06.570371Read

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