ArticleThe Journal of biological chemistry2010
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.
Article in The Journal of biological chemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 80 citations in OpenAlex.
- Structures of nucleotide-bound human telomerase at several steps of its telomeric DNA repeat addition cycle.Nature communications · 2026Article
- Telomerase RNA structural heterogeneity in living human cells detected by DMS-MaPseq.Nature communications · 2025Article
- Diabetes mellitus disrupts lncRNA Malat1 regulation of cardiac mitochondrial genome-encoded protein expression.American journal of physiology. Heart and circulatory physiology · 2024Article
- Telomerase RNA structural heterogeneity in living human cells detected by DMS-MaPseq.bioRxiv : the preprint server for biology · 2024Article
- Massively parallel dissection of RNA in RNA-protein interactions in vivo.Nucleic acids research · 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 case report of dyskeratosis congenita caused by a novel TERC mutation.Annals of hematology · 2023Article
- How Structural Features Define Biogenesis and Function of Human Telomerase RNA Primary Transcript.Biomedicines · 2022Review
- Review
- Structural biology of human telomerase: progress and prospects.Biochemical Society transactions · 2021Review
- Article
- Regulation of human telomerase RNA biogenesis and localization.RNA biology · 2021Review
- A structurally conserved human andProceedings of the National Academy of Sciences of the United States of America · 2020Article
- Composition and Function of Telomerase-A Polymerase Associated with the Origin of Eukaryotes.Biomolecules · 2020Review
- Telomerase RNA processing: Implications for human health and disease.Stem cells (Dayton, Ohio) · 2020Review
- Regulation of human telomerase in homeostasis and disease.Nature reviews. Molecular cell biology · 2020Review
- Human Telomerase RNA: Telomerase Component or More?Biomolecules · 2020Review
- How RNAi machinery enters the world of telomerase.Cell cycle (Georgetown, Tex.) · 2019Review
- AGO2 promotes telomerase activity and interaction between the telomerase components TERT and TERC.EMBO reports · 2019Article
- Mechanisms of template handling and pseudoknot folding in human telomerase and their manipulation to expand the sequence repertoire of processive repeat synthesis.Nucleic acids research · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
After the initial discovery of human telomerase deficiency in the X-linked form of the bone marrow failure syndrome dyskeratosis congenita, mutations in genes encoding telomerase subunits have been identified in patients with a wide spectrum of disorders. Structure/function studies of disease-linked variants of human telomerase RNA (hTR) or telomerase reverse transcriptase (TERT) have exploited in vitro reconstitution of the enzyme catalytic core and/or a PCR-amplified activity assay readout that would not reflect alterations of cellular RNP assembly efficiency, telomeric primer recognition, and/or repeat addition processivity. Here we used telomerase reconstitution in vivo and direct telomeric-repeat primer extension activity assays to compare the ribonucleoprotein (RNP) assembly and activity properties of disease-linked subunit variants in holoenzyme context. Analysis of a large panel of hTR variants revealed numerous biochemical mechanisms for telomerase loss of function, including reduced association of hTR with TERT, reduced RNP catalytic activity, or loss in fidelity of telomeric repeat synthesis. An absolute correlation exists between hTR loss of function and hematopoietic deficiency, but there is no readily apparent telomerase deficiency imposed by an hTR variant linked to pulmonary fibrosis. Some disease-linked TERT variants have altered properties of holoenzyme assembly or repeat addition processivity, but other TERT variants linked to either pulmonary fibrosis or hematopoietic deficiency retained normal hTR interaction and RNP catalytic activity. Combined with additional hTR structure/function studies, our results establish a new resolution of insight into hTR structural requirements for hTR-TERT interaction and for the catalytic cycle of human telomerase holoenzyme.
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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.