Originally, apomorphine was a broad-spectrum dopamine agonist with an affinity for all subtypes of the Dopamine D1 receptor to the D5 receptor. We previously identified apomorphine as a potential therapeutic agent for mitochondrial diseases by scr...
Kiri Koshu Kazuhiro Muramatsu Tomomi Maru Yoshie Kurokawa Yoshitaka Mizobe Hirokazu Yamagishi Daisuke Matsubara Koji Yokoyama Eriko Jimbo Hideki Kumagai Yukihiro Sanada Yasunaru Sakuma Noriyoshi Fukushima Aya Narita Takanori Yamagata Hitoshi Osaka
Brain & development 45(9) 517-522 2023年7月
BACKGROUND: Niemann-Pick disease type C (NPC) is an autosomal recessive inherited and neurodegenerative disorder. Approximately 10% of NPC patients have acute liver failure and sometimes need liver transplantation (LT), and 7% reportedly develop i...
Molecular genetics and metabolism reports 34 100951-100951 2023年3月
Coenzyme Q10 (CoQ10) is involved in ATP production through electron transfer in the mitochondrial respiratory chain complex. CoQ10 receives electrons from respiratory chain complex I and II to become the reduced form, and then transfers electrons ...
Molecular genetics and metabolism reports 29 100809-100809 2021年12月
Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this condition have been reported till da...
Sachie Nakamura Hitoshi Osaka Shin-Ichi Muramatsu Naomi Takino Mika Ito Eriko F Jimbo Chika Watanabe Shuji Hishikawa Takeshi Nakajima Takanori Yamagata
Gene therapy 28(6) 329-338 2021年6月
Glucose transporter 1 deficiency syndrome (GLUT1DS) is caused by haplo-insufficiency of SLC2A1, which encodes GLUT1, resulting in impaired hexose transport into the brain. Previously, we generated a tyrosine-mutant AAV9/3 vector in which SLC2A1 wa...
自治医科大学