論文 - 詳細
| RRC ID | 69749 |
|---|---|
| 著者 | Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, Shimada M, Takeshima H, Hanada K, Hirano T, Kawakita T, Sakaguchi H, Ichimura T, Ozono S, Yuge K, Watanabe Y, Kotani Y, Yamane M, Kasugai Y, Tanaka M, Suganami T, Nakada S, Mitsutake N, Hara Y, Kato K, Mizuno S, Miyake N, Kawai Y, Tokunaga K, Nagasaki M, Kito S, Isoyama K, Onodera M, Kaneko H, Matsumoto N, Matsuda F, Matsuo K, Takahashi Y, Mashimo T, Kojima S, Ogi T. |
| タイトル | Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. |
| ジャーナル | Sci Adv |
| Abstract |
Malfunctions in the formaldehyde clearance processes induce DNA damage and overload the DNA repair system and cause AMeD syndrome. |
| 巻・号 | 6(51) |
| 公開日 | 2020-12-1 |
| DOI | 10.1126/sciadv.abd7197 |
| PII | 6/51/eabd7197 |
| PMID | 33355142 |
| IF | 13.117 |
| リソース情報 | |
| 研究用ヒト臍帯血幹細胞 | |