Ontology highlight
ABSTRACT:
SUBMITTER: Ghosh A
PROVIDER: S-EPMC6834389 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Ghosh Arijit A Bhattacharjee Sangheeta S Chowdhuri Srijita Paul SP Mallick Abhik A Rehman Ishita I Basu Sudipta S Das Benu Brata BB
Science advances 20191106 11
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 largely unknown for the etiology of SCAN1. We demonstrate that mitochondria in cells exp ...[more]