Article
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Proceedings of the National Academy of Sciences of the United States of America - 14 Apr 2009
Nardo Tiziana, Oneda Roberta, Spivak Graciela, Vaz Bruno, Mortier Laurent, Thomas Pierre, Orioli Donata, Laugel Vincent, Stary Anne, Hanawalt Philip C, Sarasin Alain, Stefanini Miria
Abstract excerpt
UV-sensitive syndrome (UV(S)S) is a recently-identified autosomal recessive disorder characterized by mild cutaneous symptoms and defective transcription-coupled repair (TC-NER), the subpathway of nucleotide excision repair (NER) that rapidly removes damage that can block progression of the transcription machinery in actively-transcribed regions of DNA. Cockayne syndrome (CS) is another genetic disorder with sun...
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