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

19 Citations (Scopus)

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

Fingerprint

Electron Transport Complex I
Fanconi Anemia
DNA Repair
Energy Metabolism
Oxidation-Reduction
Leukemia
Proteins
Bone Marrow
Apoptosis
Mutation
Neoplasms

Keywords

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

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine

Cite this

Mitochondrial respiratory complex I defects in Fanconi anemia. / Cappelli, Enrico; Ravera, Silvia; Vaccaro, Daniele; Cuccarolo, Paola; Bartolucci, Martina; Panfoli, Isabella; Dufour, Carlo; Degan, Paolo.

In: Trends in Molecular Medicine, Vol. 19, No. 9, 09.2013, p. 513-514.

Research output: Contribution to journalArticle

Cappelli, Enrico ; Ravera, Silvia ; Vaccaro, Daniele ; Cuccarolo, Paola ; Bartolucci, Martina ; Panfoli, Isabella ; Dufour, Carlo ; Degan, Paolo. / Mitochondrial respiratory complex I defects in Fanconi anemia. In: Trends in Molecular Medicine. 2013 ; Vol. 19, No. 9. pp. 513-514.
@article{c014a9b50e8145b6a3f0128c64450aba,
title = "Mitochondrial respiratory complex I defects in Fanconi anemia",
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.",
keywords = "Apoptosis, Carcinogenesis, Fanconi anemia, Mitochondria, Redox balance, Respiration",
author = "Enrico Cappelli and Silvia Ravera and Daniele Vaccaro and Paola Cuccarolo and Martina Bartolucci and Isabella Panfoli and Carlo Dufour and Paolo Degan",
year = "2013",
month = "9",
doi = "10.1016/j.molmed.2013.07.008",
language = "English",
volume = "19",
pages = "513--514",
journal = "Trends in Molecular Medicine",
issn = "1471-4914",
publisher = "Elsevier Limited",
number = "9",

}

TY - JOUR

T1 - Mitochondrial respiratory complex I defects in Fanconi anemia

AU - Cappelli, Enrico

AU - Ravera, Silvia

AU - Vaccaro, Daniele

AU - Cuccarolo, Paola

AU - Bartolucci, Martina

AU - Panfoli, Isabella

AU - Dufour, Carlo

AU - Degan, Paolo

PY - 2013/9

Y1 - 2013/9

N2 - 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.

AB - 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.

KW - Apoptosis

KW - Carcinogenesis

KW - Fanconi anemia

KW - Mitochondria

KW - Redox balance

KW - Respiration

UR - http://www.scopus.com/inward/record.url?scp=84883778518&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84883778518&partnerID=8YFLogxK

U2 - 10.1016/j.molmed.2013.07.008

DO - 10.1016/j.molmed.2013.07.008

M3 - Article

C2 - 23932594

AN - SCOPUS:84883778518

VL - 19

SP - 513

EP - 514

JO - Trends in Molecular Medicine

JF - Trends in Molecular Medicine

SN - 1471-4914

IS - 9

ER -