Article
ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons.
FEBS letters - 2 May 2013
Matsui Hideaki, Sato Fumiaki, Sato Shigeto, Koike Masato, Taruno Yosuke, Saiki Shinji, Funayama Manabu, Ito Hidefumi, Taniguchi Yoshihito, Uemura Norihito, Toyoda Atsushi, Sakaki Yoshiyuki, Takeda Shunichi, Uchiyama Yasuo, Hattori Nobutaka, Takahashi Ryosuke
Abstract excerpt
Kufor-Rakeb syndrome (KRS) was originally described as an autosomal recessive form of early-onset parkinsonism with pyramidal degeneration and dementia. ATP13A2 was identified as the causative gene in KRS. ATP13A2 encodes the ATP13A2 protein, which is a lysosomal type5 P-type ATPase, and ATP13A2 mutations are linked to autosomal recessive familial parkinsonism. Here, we report that normal ATP13A2 localizes in the...
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