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Article

Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.

Human molecular genetics - 1 Mar 2010

Trahan Christian, Martel Caroline, Dragon François

Abstract excerpt

Dyskeratosis congenita (DC) is a rare genetic syndrome that gives rise to a variety of disorders in affected individuals. Remarkably, all causative gene mutations identified to date share a link to telomere/telomerase biology. We found that the most prevalent dyskerin mutation in DC (A353V) did n...

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Source

Identifiers

PMID: 20008900
DOI: 10.1093/hmg/ddp551

Genes

NOP10
NHP2
NAF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20008900-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.PMID 20008900Read ↗

Dyskeratosis congenita mutations in the H/ACA domain of human telomerase RNA affect its assembly into a pre-RNP.Semantic proximity Read ↗

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

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

Specificity and Stoichiometry of Subunit Interactions in the Human Telomerase Holoenzyme Assembled <i>In Vivo</i>Semantic proximity Read ↗

Distinct biogenesis pathways for human telomerase RNA and H/ACA small nucleolar RNAs.Semantic proximity Read ↗

N-terminal residues of human dyskerin are required for interactions with telomerase RNA that prevent RNA degradationSemantic proximity Read ↗

Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins.Semantic proximity Read ↗

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

Human dyskerin: beyond telomeresSemantic proximity Read ↗

Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activitySemantic proximity Read ↗

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.Semantic proximity Read ↗

H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.Semantic proximity Read ↗

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