display a defect in the nucleotide excision repair pathway, four (Huntington's disease, various spinocerebellar ataxias, Friedreich's ataxia and myotonic dystrophy types 1 and 2) exhibit an ...
The syndromes and diseases ... excision repair; DSB, double-stand break; ERCC2, xeroderma pigmentosum complementing protein D; ERCC3, xeroderma pigmentosum complementing protein B; NER, nucleotide ...
it coordinates potentially dangerous steps in the base excision repair pathway. Figure 1: Schematic representation of single-nucleotide BER and alternatives for aborted intermediates. Recent ...