Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.

Biochimie - 1 Oct 2013

Ravera Silvia, Vaccaro Daniele, Cuccarolo Paola, Columbaro Marta, Capanni Cristina, Bartolucci Martina, Panfoli Isabella, Morelli Alessandro, Dufour Carlo, Cappelli Enrico, Degan Paolo

Abstract excerpt

Fanconi anemia (FA) is a rare and complex inherited blood disorder of the child. At least 15 genes are associated with the disease. The highest frequency of mutations belongs to groups A, C and G. Genetic instability and cytokine hypersensitivity support the selection of leukemic over non-leukemic stem cells. FA cellular phenotype is characterized by alterations in red-ox state, mitochondrial functionality and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acetylcysteine
Share to Adenosine Monophosphate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adenylate Kinase

Share to Cell Respiration

Share to Electron Transport Complex I

Share to Fanconi Anemia

Share to Fanconi Anemia Complementation Group A Protein

Share to Oxygen Consumption

Source

Identifiers

PMID: 23791750
DOI: 10.1016/j.biochi.2013.06.006

Genes

FANCA
FANCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.PMID 23791750Read ↗

Mitochondrial DNA variations and mitochondrial dysfunction in Fanconi anemia.Semantic proximity Read ↗

Mutated FANCA Gene Role in the Modulation of Energy Metabolism and Mitochondrial Dynamics in Head and Neck Squamous Cell CarcinomaSemantic proximity Read ↗

Re-definition and supporting evidence toward Fanconi Anemia as a mitochondrial disease: Prospects for new design in clinical management.Semantic proximity Read ↗

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.Semantic proximity Read ↗

Alternative metabolic pathways for energy supply and resistance to apoptosis in Fanconi anaemia.Semantic proximity Read ↗

Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.Semantic proximity Read ↗

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.Semantic proximity Read ↗

Changes in vimentin, lamin A/C and mitofilin induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients.Semantic proximity Read ↗

[Fanconi anemia: cellular and molecular features].Semantic proximity Read ↗

Fanconi anaemia research: current status and prospects.Semantic proximity Read ↗

Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation.Semantic proximity Read ↗

Oxidative stress as a multiple effector in Fanconi anaemia clinical phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.