| Autor: |
Walton, Cheryl, Interthal, Heidrun, Hirano, Ryuki, Salih, Mustafa A. M., Takashima, Hiroshi, Boerkoel, Cornelius F. |
| Zdroj: |
Diseases of Dna Repair; 2010, p75-83, 9p |
| Abstrakt: |
Spinocerebellar ataxia with axonal neuropathy (SCAN1) is an autosomal recessive disorder caused by a specific point mutation (c.1478A>G, p.H493R) in the tyrosyl-DNA phosphodiesterase (TDP1) gene. Functional and genetic studies suggest that this mutation, which disrupts the active site of the Tdp1 enzyme, causes disease by a combination of decreased catalytic activity and stabilization of the normally transient covalent Tdp1-DNA intermediate. This covalent reaction intermediate can form during the repair of stalled topoisomerase I-DNA adducts or oxidatively damaged bases at the 3' end of the DNA at a strand break. However, our current understanding of the biology of Tdp1 function in humans is limited and does not allow us to fully elucidate the disease mec [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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