ArticleNucleic acids research2013
Many disease-associated variants of hTERT retain high telomerase enzymatic activity.
Article in Nucleic acids research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 80 citations in OpenAlex.
- Trial
- Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.Nature communications · 2026Article
- Telomerase activity in T-cells as a functional test for pathogenicity assessment of novel genetic variants in telomere biology disorders.Scientific reports · 2025Article
- High-Throughput Screening Tool to Identify Small Molecule Inhibitors of Telomerase.ACS chemical biology · 2025Article
- A novel TERT variant associated with a telomere biology disorder and challenges in variant classification.EJHaem · 2025Article
- Ultra-Early Diffuse Lung Disease in an Infant with Pathogenic Variant in Telomerase Reverse Transcriptase (Balkan journal of medical genetics : BJMG · 2024Article
- Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.Human molecular genetics · 2024Article
- A CRISPR base editing approach for the functional assessment of telomere biology disorder-related genes in human health and aging.Biogerontology · 2024Article
- Article
- The Molecular Interplay between Human Oncoviruses and Telomerase in Cancer Development.Cancers · 2022Review
- Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.Blood advances · 2022Article
- Short NK- and Naïve T-Cell Telomere Length Is Associated with Thyroid Cancer in Childhood Cancer Survivors: A Report from the Childhood Cancer Survivor Study.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Telomerase as a therapeutic target in glioblastoma.Neuro-oncology · 2021Review
- Analysis of RNA conformation in endogenously assembled RNPs by icSHAPE.STAR protocols · 2021Article
- Mild catalytic defects of tert rs61748181 polymorphism affect the clinical presentation of chronic obstructive pulmonary disease.Scientific reports · 2021Article
- Observation of processive telomerase catalysis using high-resolution optical tweezers.Nature chemical biology · 2020Article
- Regulation of human telomerase in homeostasis and disease.Nature reviews. Molecular cell biology · 2020Review
- CDK1 dependent phosphorylation of hTERT contributes to cancer progression.Nature communications · 2020Article
- Single-cell imaging reveals unexpected heterogeneity of telomerase reverse transcriptase expression across human cancer cell lines.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres.Pediatric blood & cancer · 2019Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Mutations in the gene for telomerase reverse transcriptase (hTERT) are associated with diseases including dyskeratosis congenita, aplastic anemia, pulmonary fibrosis and cancer. Understanding the molecular basis of these telomerase-associated diseases requires dependable quantitative measurements of telomerase enzyme activity. Furthermore, recent findings that the human POT1-TPP1 chromosome end-binding protein complex stimulates telomerase activity and processivity provide incentive for testing variant telomerases in the presence of these factors. In the present work, we compare multiple disease-associated hTERT variants reconstituted with the RNA subunit hTR in two systems (rabbit reticulocyte lysates and human cell lines) with respect to telomerase enzymatic activity, processivity and activation by telomere proteins. Surprisingly, many of the previously reported disease-associated hTERT alleles give near-normal telomerase enzyme activity. It is possible that a small deficit in telomerase activity is sufficient to cause telomere shortening over many years. Alternatively, mutations may perturb functions such as the recruitment of telomerase to telomeres, which are essential in vivo but not revealed by simple enzyme assays.
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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.