Article
Androgen receptor mutation in Kennedy's disease.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 29 Jun 1999
Fischbeck K H, Lieberman A, Bailey C K, Abel A, Merry D E
Abstract excerpt
Kennedy's disease is an X-linked form of motor neuron disease caused by an expanded polyglutamine repeat in the androgen receptor. While the expansion mutation causes some loss of transcriptional activity by the androgen receptor, the predominant effect of expansion is probably a toxic gain of function, similar to the mechanism of other polyglutamine expansion diseases. Features of the neurodegenerative phenotype...
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