Article
Behavioral defects in a DCTN1G71A transgenic mouse model of Perry syndrome.
Neuroscience letters - 14 Feb 2018
Mishima Takayasu, Deshimaru Manami, Watanabe Takuya, Kubota Kaori, Kinoshita-Kawada Mariko, Yuasa-Kawada Junichi, Takasaki Kotaro, Uehara Yoshinari, Jinno Shozo, Iwasaki Katsunori, Tsuboi Yoshio
Abstract excerpt
Perry syndrome is a rare neurodegenerative disease characterized by parkinsonism, depression/apathy, weight loss, and central hypoventilation. Our previously-conducted genome-wide association scan and subsequent studies identified nine mutations in DCTN1, the largest protein subunit of the dynactin complex, in patients with Perry syndrome. These included G71A in the microtubule-binding cytoskeleton-associated...
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