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| タイトル: | Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage |
| 著者: | Mu, Anfeng    https://orcid.org/0000-0001-8563-8625 (unconfirmed)Hira, Asuka Mori, Minako Okamoto, Yusuke Takata, Minoru https://orcid.org/0000-0002-4926-3675 (unconfirmed) |
| 著者名の別形: | 牟, 安峰 平, 明日香 森, 美奈子 岡本, 祐介 髙田, 穣 |
| キーワード: | Aldehyde Degradation Deficiency Syndrome ADH5 ALDH2 Fanconi anemia Formaldehyde |
| 発行日: | Oct-2023 |
| 出版者: | Elsevier BV |
| 誌名: | DNA Repair |
| 巻: | 130 |
| 論文番号: | 103546 |
| 抄録: | We have identified a set of Japanese children with hypoplastic anemia caused by combined defects in aldehyde degrading enzymes ADH5 and ALDH2. Their clinical characteristics overlap with a hereditary DNA repair disorder, Fanconi anemia. Our discovery of this disorder, termed Aldehyde Degradation Deficiency Syndrome (ADDS), reinforces the notion that endogenously generated aldehydes exert genotoxic effects; thus, the coupled actions of metabolism and DNA repair are required to maintain proper hematopoiesis and health. |
| 著作権等: | © 2023. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/. The full-text file will be made open to the public on 01 October 2024 in accordance with publisher's 'Terms and Conditions for Self-Archiving'. This is not the published version. Please cite only the published version. この論文は出版社版でありません。引用の際には出版社版をご確認ご利用ください。 |
| URI: | http://hdl.handle.net/2433/285722 |
| DOI(出版社版): | 10.1016/j.dnarep.2023.103546 |
| PubMed ID: | 37572579 |
| 出現コレクション: | 学術雑誌掲載論文等 |
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