Mitochondrial respiratory complex I defects in Fanconi anemia

Enrico Cappelli, Silvia Ravera, Daniele Vaccaro, Paola Cuccarolo, Martina Bartolucci, Isabella Panfoli, Carlo Dufour, Paolo Degan

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)513-514
Number of pages2
JournalTrends in Molecular Medicine
Volume19
Issue number9
DOIs
Publication statusPublished - Sep 2013

Keywords

  • Apoptosis
  • Carcinogenesis
  • Fanconi anemia
  • Mitochondria
  • Redox balance
  • Respiration

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine

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  • Cite this

    Cappelli, E., Ravera, S., Vaccaro, D., Cuccarolo, P., Bartolucci, M., Panfoli, I., Dufour, C., & Degan, P. (2013). Mitochondrial respiratory complex I defects in Fanconi anemia. Trends in Molecular Medicine, 19(9), 513-514. https://doi.org/10.1016/j.molmed.2013.07.008