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Article

The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.

Human molecular genetics - 1 Feb 2024

Qin Jian, Garus Alexandre, Autexier Chantal

Abstract excerpt

Dyskerin is a component of the human telomerase complex and is involved in stabilizing the human telomerase RNA (hTR). Many mutations in the DKC1 gene encoding dyskerin are found in X-linked dyskeratosis congenita (X-DC), a premature aging disorder and other related diseases. The C-terminal extension (CTE) of dyskerin contributes to its interaction with the molecular chaperone SHQ1 during the early stage of...

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PMID: 37879098
DOI: 10.1093/hmg/ddad180
PMCID: PMC10840380

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