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Article

Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants.

The Journal of biological chemistry - 12 Feb 2010

Robart Aaron R, Collins Kathleen

Abstract excerpt

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...

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Identifiers

PMID: 20022961
DOI: 10.1074/jbc.M109.088575
PMCID: PMC2836042

Genes

TERT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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