Article
TECPR2 maintains mitochondrial homeostasis in neurodegeneration
2025-09-07
Abstract excerpt
HSAN9 is a rare progressive neurodegenerative disease in children linked to bi-allelic loss-of-function mutations in the TECPR2 gene. TECPR2 is a multi-domain protein harboring N-terminal WD repeats and C-terminal TECPR repeats, followed by a functional LIR motif that serves in autolysosomal targeting. Here, we show that the lack of TECPR2 leads to impairment of mitophagy that can be recovered by the expression o...
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Identifiers and source
- Literature Corpus work
- d698fda8-1f00-5888-b4de-6d1c58263a47
- DOI
- 10.1101/2025.09.04.674193
