The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.

doi:10.1007/s00401-024-02762-6

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Article

The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.

Acta neuropathologica - 1 Aug 2024

Weber Jonasz J, Czisch Leah, Pereira Sena Priscila, Fath Florian, Huridou Chrisovalantou, Schwarz Natasa, Incebacak Eltemur Rana D, Würth Anna, Weishäupl Daniel, Döcker Miriam, Blumenstock Gunnar, Martins Sandra, Sequeiros Jorge, Rouleau Guy A, Jardim Laura Bannach, Saraiva-Pereira Maria-Luiza, França Marcondes C, Gordon Carlos R, Zaltzman Roy, Cornejo-Olivas Mario R, van de Warrenburg Bart P C, Durr Alexandra, Brice Alexis, Bauer Peter, Klockgether Thomas, Schöls Ludger, Riess Olaf, Schmidt Thorsten

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative spinocerebellar ataxia caused by a polyglutamine-coding CAG repeat expansion in the ATXN3 gene. While the CAG length correlates negatively with the age at onset, it accounts for approximately 50% of its variability only. Despite larger efforts in identifying contributing genetic factors, candidate genes with a robust and plausible impact on...

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PMID: 39088078
DOI: 10.1007/s00401-024-02762-6
PMCID: PMC11294389

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