ArticleRare diseases (Austin, Tex.)2013
Damaged mitochondria and overproduction of ROS in Fanconi anemia cells.
Article in Rare diseases (Austin, Tex.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Fanconi Anemia: Interplay Between DNA Repair Defects, Mitochondrial Dysfunction, and Oxidative Stress.Cells · 2026Review
- Loss of Fanconi anemia proteins causes a reliance on lysosomal exocytosis.Cell death & disease · 2025Article
- miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability.Cellular and molecular life sciences : CMLS · 2025Article
- Tris(1,3-dichloro-2-propyl) phosphate disrupts cellular metabolism within human embryonic kidney (HEK293) cells.Journal of hazardous materials · 2024Article
- Glucose oxidation-dependent survival of activated B cells provides a putative novel therapeutic target for lupus treatment.iScience · 2023Article
- Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia.Antioxidants (Basel, Switzerland) · 2023Article
- Mitochondrial ROS Triggers KIN Pathogenesis in FAN1-Deficient Kidneys.Antioxidants (Basel, Switzerland) · 2023Article
- Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated forInternational journal of molecular sciences · 2023Article
- Review
- A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A.Metabolites · 2021Article
- Mitoprotective Clinical Strategies in Type 2 Diabetes and Fanconi Anemia Patients: Suggestions for Clinical Management of Mitochondrial Dysfunction.Antioxidants (Basel, Switzerland) · 2020Review
- Proteomic profiling and bioinformatics analysis identify key regulators during the process from fanconi anemia to acute myeloid leukemia.American journal of translational research · 2020Article
- Article
- Fanconi anemia protein FANCD2 is activated by AICAR, a modulator of AMPK and cellular energy metabolism.FEBS open bio · 2017Article
- Maintenance of genome stability by Fanconi anemia proteins.Cell & bioscience · 2017Review
- AMP-activated protein kinase is involved in the activation of the Fanconi anemia/BRCA pathway in response to DNA interstrand crosslinks.Oncotarget · 2016Article
- High-risk human papillomavirus E6 protein promotes reprogramming of Fanconi anemia patient cells through repression of p53 but does not allow for sustained growth of induced pluripotent stem cells.Journal of virology · 2014Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fanconi anemia (FA) is a heterogeneous disease associated with a bone marrow failure, cancer predisposition and hypersensitivity to DNA crosslinking agents. To date, 15 different genes have been shown to cause FA, all of which have some role in repair of defective DNA interstrand crosslinks. On a biochemical level, many FA individuals display insufficient growth hormone production, abnormal glucose or insulin metabolism. Clinical phenotype may include hydrocephalia, the erythrophagocytosis and diabetes mellitus, thus linking FA with metabolic disorders that involve impaired oxygen metabolism and mitochondrial alterations. Our recent study demonstrates the decrease of FA mitochondrial membrane potential, low ATP production, impaired oxygen uptake and pathological changes in the morphology of FA mitochondria. This is accompanied by inactivation of the enzymes responsible for energy production and detoxification of ROS. We also propose that FA oversensitivity to DNA crosslinkers may be caused by the overproduction of mitochondrial ROS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.