Reference - Detail
| RRC ID | 69749 |
|---|---|
| Author | 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. |
| Title | Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. |
| Journal | Sci Adv |
| Abstract |
Malfunctions in the formaldehyde clearance processes induce DNA damage and overload the DNA repair system and cause AMeD syndrome. |
| Volume | 6(51) |
| Published | 2020-12-1 |
| DOI | 10.1126/sciadv.abd7197 |
| PII | 6/51/eabd7197 |
| PMID | 33355142 |
| IF | 13.117 |
| Resource | |
| Cord blood stem cells for research | |