Article
Age at onset of Huntington disease is not modulated by the R72P variation in TP53 and the R196K variation in the gene coding for the human caspase activated DNase (hCAD).
BMC medical genetics - 3 Oct 2005
Arning Larissa, Kraus Peter H, Saft Carsten, Andrich Jürgen, Epplen Jörg T
Abstract excerpt
BACKGROUND: TP53 is an attractive candidate for modifying age of onset (AO) in Huntington disease (HD): The amino-terminus of the mutated huntingtin (htt) exon 1 translation product has functional properties which may affect critically the TP53 pathway in HD neurons. The pathogenic domain of mutant htt interacts with nuclear transcription factors, and it potentially modulates TP53-induced transcriptional events....
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