Article
Mutant androgen receptor accumulation in spinal and bulbar muscular atrophy scrotal skin: a pathogenic marker.
Annals of neurology - 1 Mar 2006
Banno Haruhiko, Adachi Hiroaki, Katsuno Masahisa, Suzuki Keisuke, Atsuta Naoki, Watanabe Hirohisa, Tanaka Fumiaki, Doyu Manabu, Sobue Gen
Abstract excerpt
OBJECTIVE: Spinal and bulbar muscular atrophy (SBMA) is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR). The nuclear accumulation of mutant AR is central to the pathogenesis of SBMA. Androgen deprivation with leuprorelin inhibits mutant AR accumulation, resulting in rescue of neuronal dysfunction in a mouse model of SBMA. This study aimed to...
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