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Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A |
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| Authors: | Silvia Ravera Daniele Vaccaro Paola Cuccarolo Marta Columbaro Cristina Capanni Martina Bartolucci Isabella Panfoli Alessandro Morelli Carlo Dufour Enrico Cappelli Paolo Degan |
| Affiliation: | 1. DIFAR-Biochemistry Lab., Department of Pharmacology, University of Genova, 16132 Genova, Italy;2. DISTAV, Dipartimento di Scienze della Terra, dell''Ambiente e della Vita, University of Genova, 16132 Genova, Italy;3. Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino – IST (Istituto Nazionale per la Ricerca sul Cancro), CBA Torre A2, 16123 Genova, Italy;4. SC Laboratory of Musculoskeletal Cell Biology, Rizzoli Orthopaedic Institute, Via di Barbiano 1/10, 40136 Bologna, Italy;5. Hematology Unit, Istituto Giannina Gaslini, 16148 Genova, Italy;6. CNR-National Research Council of Italy, Institute of Molecular Genetics, Unit of Bologna-IOR, Bologna, Italy |
| Abstract: | Fanconi anemia (FA) is a rare and complex inherited blood disorder of the child. At least 15 genes are associated with the disease. The highest frequency of mutations belongs to groups A, C and G. Genetic instability and cytokine hypersensitivity support the selection of leukemic over non-leukemic stem cells. |
| Keywords: | Fanconi anemia Mitochondria Respiration Reactive oxygen species ATP |
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