ArticleDNA repair2014
Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.
Article in DNA repair, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 76 citations in OpenAlex.
- In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.Molecular and cellular biochemistry · 2018Trial
- Recent Advances in Therapy for the Neurodegenerative Disorder Ataxia-Telangiectasia.International journal of molecular sciences · 2026Review
- Autoinflammatory syndromes of STING and TREX1 dysfunction.The Journal of clinical investigation · 2026Review
- Modification Effects of Homologous Recombination Repair Gene Polymorphisms on the Associations Between Urinary Metals and Breast Cancer Risk.Biological trace element research · 2025Article
- ATM inhibition blocks glucose metabolism and amplifies the sensitivity of resistant lung cancer cell lines to oncogene driver inhibitors.Cancer & metabolism · 2023Article
- Dysregulation of DNA repair genes in Fuchs endothelial corneal dystrophy.Experimental eye research · 2023Article
- Metabolic Stress and Mitochondrial Dysfunction in Ataxia-Telangiectasia.Antioxidants (Basel, Switzerland) · 2022Review
- Mitochondrial DNA damage as driver of cellular outcomes.American journal of physiology. Cell physiology · 2022Review
- Cellular functions of the protein kinase ATM and their relevance to human disease.Nature reviews. Molecular cell biology · 2021Review
- DNA Damage-Induced Neurodegeneration in Accelerated Ageing and Alzheimer's Disease.International journal of molecular sciences · 2021Review
- A novel method to detect intracellular metabolite alterations in MCF-7 cells by doxorubicin induced cell death.Metabolomics : Official journal of the Metabolomic Society · 2021Article
- Cell Metabolism and DNA Repair Pathways: Implications for Cancer Therapy.Frontiers in cell and developmental biology · 2021Review
- Review
- Mitochondria in skin health, aging, and disease.Cell death & disease · 2020Review
- Ultraviolet A light induces DNA damage and estrogen-DNA adducts in Fuchs endothelial corneal dystrophy causing females to be more affected.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Maternal transmission of mitochondrial diseases.Genetics and molecular biology · 2020Article
- NADNature communications · 2019Article
- Emerging Perspectives on DNA Double-strand Breaks in Neurodegenerative Diseases.Current neuropharmacology · 2019Review
- GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.Brain : a journal of neurology · 2018Article
- Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis?Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Ataxia Telangiectasia (A-T) is a progressive childhood disorder characterized most notably by cerebellar degeneration and predisposition to cancer. A-T is caused by mutations in the kinase ATM, a master regulator of the DNA double-strand break response. In addition to DNA-damage signaling defects, A-T cells display mitochondrial dysfunction that is thought to contribute to A-T pathogenesis. However, the molecular mechanism leading to mitochondrial dysfunction in A-T remains unclear. Here, we show that lack of ATM leads to reduced mitochondrial DNA (mtDNA) integrity and mitochondrial dysfunction, which are associated to defective mtDNA repair. While protein levels of mtDNA repair proteins are essentially normal, in the absence of ATM levels specifically of DNA ligase III (Lig3), the only DNA ligase working in mitochondria is reduced. The reduction of Lig3 is observed in different A-T patient cells, in brain and pre-B cells derived from ATM knockout mice as well as upon transient or stable knockdown of ATM. Furthermore, pharmacological inhibition of Lig3 in wild type cells phenocopies the mtDNA repair defects observed in A-T patient cells. As targeted deletion of LIG3 in the central nervous system causes debilitating ataxia in mice, reduced Lig3 protein levels and the consequent mtDNA repair defect may contribute to A-T neurodegeneration. A-T is thus the first disease characterized by diminished Lig3.
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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.