Reference - Detail
| RRC ID | 78725 |
|---|---|
| Author | Mu A, Hira A, Mori M, Okamoto Y, Takata M. |
| Title | Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage. |
| Journal | DNA Repair (Amst) |
| Abstract |
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. |
| Volume | 130 |
| Pages | 103546 |
| Published | 2023-10-1 |
| DOI | 10.1016/j.dnarep.2023.103546 |
| PII | S1568-7864(23)00100-3 |
| PMID | 37572579 |
| MeSH | Aldehyde Dehydrogenase, Mitochondrial / genetics Aldehyde Dehydrogenase, Mitochondrial / metabolism Aldehydes / metabolism Child DNA Damage DNA Repair Fanconi Anemia* / genetics Fanconi Anemia* / metabolism Hematopoiesis Humans |
| IF | 3.339 |
| Altmetric score |
オルトメトリクス指標項目
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| The most frequently cited source | X(Twitter) |
| Total number of mentions | 7 |
| Altmetric score changes over past 6months | 0.0 |
| Resource | |
| Human and Animal Cells | 201B7(HPS0063) |