In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation

A homozygous H493R mutation in the active site of tyrosyl-DNA phosphodiesterase (TDP1) has been implicated in hereditary spinocerebellar ataxia with axonal neuropathy (SCAN1), an autosomal recessive neurodegenerative disease. However, it is uncertain how the H493R mutation elicits the specific patho...

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Detalhes bibliográficos
Main Authors: Hawkins, Amy J., Subler, Mark A., Akopiants, Konstantin, Wiley, Jenny L., Taylor, Shirley M., Rice, Ann C., Windle, Jolene J., Valerie, Kristoffer, Povirk, Lawrence F.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2844109/
https://ncbi.nlm.nih.gov/pubmed/19211312
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.dnarep.2008.12.012
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