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Article

Molecular basis of telomere syndrome caused by CTC1 mutations.

Genes & development - 1 Oct 2013

Chen Liuh-Yow, Majerská Jana, Lingner Joachim

Abstract excerpt

Mutations in CTC1 lead to the telomere syndromes Coats Plus and dyskeratosis congenita (DC), but the molecular mechanisms involved remain unknown. CTC1 forms with STN1 and TEN1 a trimeric complex termed CST, which binds ssDNA, promotes telomere DNA synthesis, and inhibits telomerase-mediated telomere elongation. Here we identify CTC1 disease mutations that disrupt CST complex formation, the physical interaction...

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Source

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Identifiers

PMID: 24115768
DOI: 10.1101/gad.222893.113
PMCID: PMC3850094

Genes

CTC1
STN1
TEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Molecular basis of telomere syndrome caused by CTC1 mutations.PMID 24115768Read ↗

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.Semantic proximity Read ↗

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Structural and functional analysis of an OB-fold in human Ctc1 implicated in telomere maintenance and bone marrow syndromes.Semantic proximity Read ↗

An emerging role for the conserved telomere component 1 (CTC1) in human genetic disease.Semantic proximity Read ↗

Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenitaSemantic proximity Read ↗

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