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Article

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

The EMBO journal - 14 Nov 2007

Hirano Ryuki, Interthal Heidrun, Huang Cheng, Nakamura Tomonori, Deguchi Kimiko, Choi Kunho, Bhattacharjee Meenakshi B, Arimura Kimiyoshi, Umehara Fujio, Izumo Shuji, Northrop Jennifer L, Salih Mustafa A M, Inoue Ken, Armstrong Dawna L, Champoux James J, Takashima Hiroshi, Boerkoel Cornelius F

Abstract excerpt

Tyrosyl-DNA phosphodiesterase 1 (Tdp1) cleaves the phosphodiester bond between a covalently stalled topoisomerase I (Topo I) and the 3' end of DNA. Stalling of Topo I at DNA strand breaks is induced by endogenous DNA damage and the Topo I-specific anticancer drug camptothecin (CPT). The H493R mutation of Tdp1 causes the neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy (SCAN1). Contrary to...

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Identifiers

PMID: 17948061
DOI: 10.1038/sj.emboj.7601885
PMCID: PMC2080798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?PMID 17948061Read ↗

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