Article
Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.
Human molecular genetics - 1 Apr 2010
Kerzendorfer Claudia, Whibley Annabel, Carpenter Gillian, Outwin Emily, Chiang Shih-Chieh, Turner Gillian, Schwartz Charles, El-Khamisy Sherif, Raymond F Lucy, O'Driscoll Mark
Abstract excerpt
CUL4A and B encode subunits of E3-ubiquitin ligases implicated in diverse processes including nucleotide excision repair, regulating gene expression and controlling DNA replication fork licensing. But, the functional distinction between CUL4A and CUL4B, if any, is unclear. Recently, mutations in CUL4B were identified in humans associated with mental retardation, relative macrocephaly, tremor and a peripheral...
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