Article
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.
DNA repair - 1 May 2009
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
Abstract excerpt
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 pathologies of SCAN1. To address this question, and to further elucidate the role of TDP1 in repair of DNA end...
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