Open AccessDigenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome
Author(s) -
Yasuyoshi Oka,
Motoharu Hamada,
Yuka Nakazawa,
Hideki Muramatsu,
Yusuke Okuno,
Koichiro Higasa,
Mayuko Shimada,
Honoka Takeshima,
Katsuhiro Hanada,
Taichi Hirano,
Toshiro Kawakita,
Hirotoshi Sakaguchi,
Takuya Ichimura,
Shuichi Ozono,
Kotaro Yuge,
Yoriko Watanabe,
Yuko Kotani,
Mutsumi Yamane,
Yumiko Kasugai,
Miyako Tanaka,
Takayoshi Suganami,
Shinichiro Nakada,
Norisato Mitsutake,
Yuichiro Hara,
Kohji Kato,
Seiji Mizuno,
Noriko Miyake,
Yosuke Kawai,
Katsushi Tokunaga,
Masao Nagasaki,
Seiji Kito,
Keiichi Isoyama,
Masafumi Onodera,
Hideo Kaneko,
Naomichi Matsumoto,
Fumihiko Matsuda,
Keitaro Matsuo,
Yoshiyuki Takahashi,
Tomoji Mashimo,
Seiji Kojima,
Tomoo Ogi
Publication year - 2020
Publication title -
science advances
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.928
H-Index - 146
ISSN - 2375-2548
DOI - 10.1126/sciadv.abd7197
Subject(s) - aldh2 , formaldehyde , mutation , genetic disorder , medicine , genetics , biology , bioinformatics , genotype , biochemistry , gene
Malfunctions in the formaldehyde clearance processes induce DNA damage and overload the DNA repair system and cause AMeD syndrome.
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