Article
Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients.
Brain : a journal of neurology - 1 Mar 2005
Adachi Hiroaki, Katsuno Masahisa, Minamiyama Makoto, Waza Masahiro, Sang Chen, Nakagomi Yuji, Kobayashi Yasushi, Tanaka Fumiaki, Doyu Manabu, Inukai Akira, Yoshida Mari, Hashizume Yoshio, Sobue Gen
Abstract excerpt
Spinal and bulbar muscular atrophy (SBMA) is an inherited adult onset motor neuron disease caused by the expansion of a polyglutamine (polyQ) tract within the androgen receptor (AR), affecting only males. The characteristic pathological finding is nuclear inclusions (NIs) consisting of mutant AR with an expanded polyQ in residual motor neurons, and in certain visceral organs. We immunohistochemically examined 11...
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