ArticleHuman molecular genetics2009
Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 37 citations in OpenAlex.
- Interprotomer communication and functional asymmetry in H/ACA snoRNPs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- SNORD113-114 cluster maintains haematopoietic stem cell self-renewal via orchestrating the translation machinery.Nature cell biology · 2025Article
- The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.Human molecular genetics · 2024Article
- New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond.Genes · 2023Article
- Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation.Human genetics · 2023Article
- Article
- Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.Molecular genetics & genomic medicine · 2017Article
- Towards an understanding of regulating Cajal body activity by protein modification.RNA biology · 2017Review
- Telomerase Regulation from Beginning to the End.Genes · 2016Review
- Molecular basis of telomere dysfunction in human genetic diseases.Nature structural & molecular biology · 2015Review
- Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.British journal of haematology · 2015Review
- Structure and interactions of the CS domain of human H/ACA RNP assembly protein Shq1.Journal of molecular biology · 2015Article
- Article
- Acute dyskerin depletion triggers cellular senescence and renders osteosarcoma cells resistant to genotoxic stress-induced apoptosis.Biochemical and biophysical research communications · 2014Article
- RNA-guided isomerization of uridine to pseudouridine--pseudouridylation.RNA biology · 2014Review
- RNA pseudouridylation: new insights into an old modification.Trends in biochemical sciences · 2013Review
- Mechanism of the AAA+ ATPases pontin and reptin in the biogenesis of H/ACA RNPs.RNA (New York, N.Y.) · 2012Article
- The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.Human molecular genetics · 2012Article
- Dyskeratosis congenita as a disorder of telomere maintenance.Mutation research · 2012Review
- Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.The EMBO journal · 2011Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
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, microRNAs and the telomerase RNP. DC mutations concentrate in the N- and C-termini of NAP57 but not in its central catalytic domain raising questions as to their impact. We demonstrate that the N- and C-termini together form the binding surface for the H/ACA RNP assembly factor SHQ1 and that DC mutations modulate the interaction between the two proteins. Pinpointing impaired interaction between NAP57 and SHQ1 as a potential molecular basis for X-linked DC has implications for therapeutic approaches, e.g. by targeting the NAP57-SHQ1 interface with small molecules.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.