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Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice.
Yuan T, Kumar S, Skinner ME, Victor-Joseph R, Abuaita M, Keijer J, Zhang J, Kunkel TJ, Liu Y, Petrunak EM, Saunders TL, Lieberman AP, Stuckey JA, Neamati N, Al-Murshedi F, Alfadhel M, Spelbrink JN, Rodenburg R, de Boer VCJ, Lombard DB. Yuan T, et al. Among authors: abuaita m. iScience. 2024 May 15;27(6):109991. doi: 10.1016/j.isci.2024.109991. eCollection 2024 Jun 21. iScience. 2024. PMID: 38846003 Free PMC article.
SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology.
Yuan T, Kumar S, Skinner M, Victor-Joseph R, Abuaita M, Keijer J, Zhang J, Kunkel TJ, Liu Y, Petrunak EM, Saunders TL, Lieberman AP, Stuckey JA, Neamati N, Al-Murshedi F, Alfadhel M, Spelbrink JN, Rodenburg R, de Boer VCJ, Lombard DB. Yuan T, et al. Among authors: abuaita m. bioRxiv [Preprint]. 2023 Dec 8:2023.12.06.570371. doi: 10.1101/2023.12.06.570371. bioRxiv. 2023. PMID: 38105987 Free PMC article. Preprint.