The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.
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Acta Neuropathol. 2024 Aug 1;148(1):14. doi: 10.1007/s00401-024-02762-6.
Acta Neuropathol. 2024.
PMID: 39088078
Free PMC article.