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Article

Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.

Human molecular genetics - 1 Dec 2009

Grozdanov Petar N, Fernandez-Fuentes Narcis, Fiser Andras, Meier U Thomas

Abstract excerpt

X-linked dyskeratosis congenita (DC) is a rare bone marrow failure syndrome caused by mostly missense mutations in the pseudouridine synthase NAP57 (dyskerin/Cbf5). As part of H/ACA ribonucleoproteins (RNPs), NAP57 is important for the biogenesis of ribosomes, spliceosomal small nuclear RNPs, mic...

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Source

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Identifiers

PMID: 19734544
DOI: 10.1093/hmg/ddp416
PMCID: PMC2773269

Genes

SHQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19734544-2026-09-02.2. 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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Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.PMID 19734544Read ↗

The H/ACA RNP assembly factor SHQ1 functions as an RNA mimic.Semantic proximity Read ↗

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Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.Semantic proximity Read ↗

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Human dyskerin: beyond telomeresSemantic proximity Read ↗

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