{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bellodi C"],"funding":["Intramural NIH HHS","NIDDK NIH HHS","Howard Hughes Medical Institute","NHLBI NIH HHS","NIGMS NIH HHS"],"pagination":["1493-502"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3857015"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["3(5)"],"pubmed_abstract":["Noncoding RNAs control critical cellular processes, although their contribution to disease remains largely unexplored. Dyskerin associates with hundreds of H/ACA small RNAs to generate a multitude of functionally distinct ribonucleoproteins (RNPs). The DKC1 gene, encoding dyskerin, is mutated in the multisystem disorder X-linked dyskeratosis congenita (X-DC). A central question is whether DKC1 mutations affect the stability of H/ACA RNPs, including those modifying ribosomal RNA (rRNA). We carried out comprehensive profiling of dyskerin-associated H/ACA RNPs, revealing remarkable heterogeneity in the expression and function of subsets of H/ACA small RNAs in X-DC patient cells. Using a mass spectrometry approach, we uncovered single-nucleotide perturbations in dyskerin-guided rRNA modificati"],"journal":["Cell reports"],"pubmed_title":["H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation."],"pmcid":["PMC3857015"],"funding_grant_id":["8P41GM103481","P41 GM103481","R01DK098057","R01 DK098057","3R01HL085572-05S1","R01 HL085572","R01HL085572"],"pubmed_authors":["Shimamura A","Maltby D","Bellodi C","Contreras A","Savage SA","McMahon M","Juliano D","Kopmar N","Nakamura T","Ruggero D","Burlingame A"],"additional_accession":[]},"is_claimable":false,"name":"H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.","description":"Noncoding RNAs control critical cellular processes, although their contribution to disease remains largely unexplored. Dyskerin associates with hundreds of H/ACA small RNAs to generate a multitude of functionally distinct ribonucleoproteins (RNPs). The DKC1 gene, encoding dyskerin, is mutated in the multisystem disorder X-linked dyskeratosis congenita (X-DC). A central question is whether DKC1 mutations affect the stability of H/ACA RNPs, including those modifying ribosomal RNA (rRNA). We carried out comprehensive profiling of dyskerin-associated H/ACA RNPs, revealing remarkable heterogeneity in the expression and function of subsets of H/ACA small RNAs in X-DC patient cells. Using a mass spectrometry approach, we uncovered single-nucleotide perturbations in dyskerin-guided rRNA modificati","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 May","modification":"2026-04-29T01:03:17.561Z","creation":"2019-03-27T01:18:14Z"},"accession":"S-EPMC3857015","cross_references":{"pubmed":["23707062"],"doi":["10.1016/j.celrep.2013.04.030"]}}