Article

Mitochondrial dysfunction precedes neurodegeneration in DRPLA patient-derived neurons, and phenylbutyrate improves survival

2025-09-07

Abstract excerpt

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the ATN1 gene, which encodes the transcriptional corepressor Atrophin-1. The temporal sequence of molecular mechanisms driving neuronal dysfunction and degeneration in DRPLA is poorly understood, limiting therapeutic development. We generated patient-derived induced plurip...

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Literature Corpus work: e4ae3115-2854-5e89-acf3-5fa578c2f400
DOI: 10.1101/2025.09.02.673807

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