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Disease mutations in the N-terminal extension and α2’-helix of dyskerin do not abolish dimerization but disrupt binding to the telomerase RNA

31 Jul 2026

Abstract excerpt

The H/ACA ribonucleoprotein complex component dyskerin is essential for the biogenesis of H/ACA RNAs, including the human telomerase RNA (hTR). The N-terminal extension and α2' helix of dyskerin are hotspots for disease-associated mutations linked to X-linked dyskeratosis congenita (X-DC), a premature aging disorder. Some of these mutations disrupt dyskerin-hTR interactions, leading to hTR destabilization and...

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Share to RNA Interference and Gene Delivery
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Share to Telomeres, Telomerase, and Senescence

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PMID: 42538130
DOI: 10.1261/rna.081234.126

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Disease mutations in the N-terminal extension and α2’-helix of dyskerin do not abolish dimerization but disrupt binding to the telomerase RNAPMID 42538130Read ↗

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