ArticleMolecular neurodegeneration2015
Identification of telomere dysfunction in Friedreich ataxia.
Article in Molecular neurodegeneration, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 19 citations in OpenAlex.
- Review
- Tracing mitochondrial marks of neuronal aging in iPSCs-derived neurons and directly converted neurons.Communications biology · 2025Article
- Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps.Cerebellum (London, England) · 2024Article
- A new FRDA mouse model [Frontiers in neuroscience · 2023Article
- Review
- Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases.Antioxidants (Basel, Switzerland) · 2022Article
- Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes.Scientific reports · 2018Article
- Lifetime study in mice after acute low-dose ionizing radiation: a multifactorial study with special focus on cataract risk.Radiation and environmental biophysics · 2018Article
- Mechanisms and consequences of aneuploidy and chromosome instability in the aging brain.Mechanisms of ageing and development · 2017Review
- Analysis of alternative lengthening of telomere markers in BRCA1 defective cells.Genes, chromosomes & cancer · 2016Article
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 2 institutions in 1 country.
Funding
Abstract
backgroundFriedreich ataxia (FRDA) is a progressive inherited neurodegenerative disorder caused by mutation of the FXN gene, resulting in decreased frataxin expression, mitochondrial dysfunction and oxidative stress. A recent study has identified shorter telomeres in FRDA patient leukocytes as a possible disease biomarker.
resultsHere we aimed to investigate both telomere structure and function in FRDA cells. Our results confirmed telomere shortening in FRDA patient leukocytes and identified similar telomere shortening in FRDA patient autopsy cerebellar tissues. However, FRDA fibroblasts showed significantly longer telomeres at early passage, occurring in the absence of telomerase activity, but with activation of an alternative lengthening of telomeres (ALT)-like mechanism. These cells also showed accelerated telomere shortening as population doubling increases. Furthermore, telomere dysfunction-induced foci (TIF) analysis revealed that FRDA fibroblasts have dysfunctional telomeres.
conclusionsOur finding of dysfunctional telomeres in FRDA cells provides further insight into FRDA molecular disease mechanisms, which may have implications for future FRDA therapy.
Indexed as
Identifiers
What OpenQuestion holds
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.