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

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 mutati...

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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2007
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2080798/
https://ncbi.nlm.nih.gov/pubmed/17948061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/sj.emboj.7601885
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