Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

Autor:	Yumiko Kasugai, Shinichiro Nakada, Takuya Ichimura, Mutsumi Yamane, Yoshiyuki Takahashi, Katsushi Tokunaga, Keitaro Matsuo, Kotaro Yuge, Hideki Muramatsu, Masao Nagasaki, Seiji Kito, Yuichiro Hara, Koichiro Higasa, Naomichi Matsumoto, Motoharu Hamada, Tomoo Ogi, Takayoshi Suganami, Yuko Kotani, Hirotoshi Sakaguchi, Yusuke Okuno, Shuichi Ozono, Norisato Mitsutake, Yosuke Kawai, Toshiro Kawakita, Yasuyoshi Oka, Fumihiko Matsuda, Taichi Hirano, Noriko Miyake, Yoriko Watanabe, Mayuko Shimada, Miyako Tanaka, Honoka Takeshima, Keiichi Isoyama, Hideo Kaneko, Tomoji Mashimo, Seiji Mizuno, Katsuhiro Hanada, Yuka Nakazawa, Masafumi Onodera, Kohji Kato, Seiji Kojima
Rok vydání:	2020
Předmět:	0301 basic medicine medicine.medical_specialty Multidisciplinary biology DNA damage Chemistry Formaldehyde Aldehyde dehydrogenase Endogeny Alcohol 03 medical and health sciences chemistry.chemical_compound 030104 developmental biology 0302 clinical medicine Endocrinology Internal medicine medicine biology.protein Gene 030217 neurology & neurosurgery ALDH2
Zdroj:	Science Advances. 6
ISSN:	2375-2548
DOI:	10.1126/sciadv.abd7197
Popis:	Rs671 in the aldehyde dehydrogenase 2 gene (ALDH2) is the cause of Asian alcohol flushing response after drinking. ALDH2 detoxifies endogenous aldehydes, which are the major source of DNA damage re...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::f4b54ef52b90df081647a7d6abde7ad2 https://doi.org/10.1126/sciadv.abd7197 Zobrazit plný text záznamu