Article

Circadian Rhythms are Disrupted in Patients and Preclinical Models of Machado-Joseph Disease

2025-01-04

Abstract excerpt

Machado-Joseph disease (MJD) is caused by an abnormal CAG repeat expansion in the ATXN3 gene, leading to the expression of a mutant ataxin-3 (mutATXN3) protein. MJD patients exhibit a wide range of clinical symptoms, including motor incoordination. Emerging evidence highlights circadian rhythm disruptions as early indicators and potential risk factors for the progression of neurodegenerative conditions. Circadian...

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Literature Corpus work: f1037273-67a3-5d0b-9105-70020d9d97c7
DOI: 10.1101/2025.01.03.631212

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