Article
Functional consequences of mutations in the conserved SF2 motifs and post-translational phosphorylation of the CSB protein.
Nucleic acids research - 1 Feb 2003
Christiansen Mette, Stevnsner Tinna, Modin Charlotte, Martensen Pia M, Brosh Robert M, Bohr Vilhelm A
Abstract excerpt
The rare inherited human genetic disorder Cockayne syndrome (CS) is characterized by developmental abnormalities, UV sensitivity and premature aging. The cellular and molecular phenotypes of CS include increased sensitivity to UV-induced and oxidative DNA lesions. Two genes are involved: CSA and CSB. The CS group B (CSB) protein has roles in transcription, transcription-coupled repair, and base excision repair....
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