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Article

SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy.

Science advances - 1 Nov 2019

Ghosh Arijit, Bhattacharjee Sangheeta, Chowdhuri Srijita Paul, Mallick Abhik, Rehman Ishita, Basu Sudipta, Das Benu Brata

Abstract excerpt

A homozygous mutation of human tyrosyl-DNA phosphodiesterase 1 (TDP1) causes the neurodegenerative syndrome, spinocerebellar ataxia with axonal neuropathy (SCAN1). TDP1 hydrolyzes the phosphodiester bond between DNA 3'-end and a tyrosyl moiety within trapped topoisomerase I (Top1)-DNA covalent complexes (Top1cc). TDP1 is critical for mitochondrial DNA (mtDNA) repair; however, the role of mitochondria remains...

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Source

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Identifiers

PMID: 31723605
DOI: 10.1126/sciadv.aax9778
PMCID: PMC6834389

Genes

TDP1
PTEN

Provenance

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