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. 2013 Sep;19(9):513-4.
doi: 10.1016/j.molmed.2013.07.008. Epub 2013 Aug 6.

Mitochondrial Respiratory Complex I Defects in Fanconi Anemia


Mitochondrial Respiratory Complex I Defects in Fanconi Anemia

Enrico Cappelli et al. Trends Mol Med. .


Fanconi anemia (FA) is a rare, complex disorder that manifests in childhood. Children with FA suffer bone marrow failure, leukemias, or solid tumors. FA-associated mutations are found in 15 proteins that are involved in DNA repair. Some of these proteins have extranuclear activities involving redox balance, apoptosis, and energy metabolism; and recent data demonstrate respiratory impairment in FA cells, suggesting that altered mitochondrial function is a factor in this disease.

Keywords: Fanconi anemia; apoptosis; carcinogenesis; mitochondria; redox balance; respiration.

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