Mitochondrial respiratory complex I defects in Fanconi anemia.
Trends Mol Med
; 19(9): 513-4, 2013 Sep.
Article
en En
| MEDLINE
| ID: mdl-23932594
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Complejo I de Transporte de Electrón
/
Anemia de Fanconi
/
Mitocondrias
/
Neoplasias
Límite:
Child
/
Humans
Idioma:
En
Revista:
Trends Mol Med
Asunto de la revista:
BIOLOGIA MOLECULAR
Año:
2013
Tipo del documento:
Article
País de afiliación:
Italia
Pais de publicación:
Reino Unido