Published 2013
| Version v1
Publication
Mitochondrial respiratory complex I defects in Fanconi anemia.
Description
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.
Additional details
Identifiers
- URL
- https://hdl.handle.net/11567/748590
- URN
- urn:oai:iris.unige.it:11567/748590
Origin repository
- Origin repository
- UNIGE