| http://purl.uniprot.org/citations/19734544 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19734544 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19734544 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddp416"xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddp416"xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/author | "Fiser A."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/author | "Fiser A."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/author | "Fernandez-Fuentes N."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/author | "Fernandez-Fuentes N."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/author | "Grozdanov P.N."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/author | "Grozdanov P.N."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/author | "Meier U.T."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/author | "Meier U.T."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/pages | "4546-4551"xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/pages | "4546-4551"xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/title | "Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/title | "Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita."xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/volume | "18"xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://purl.uniprot.org/core/volume | "18"xsd:string |
| http://purl.uniprot.org/citations/19734544 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19734544 |
| http://purl.uniprot.org/citations/19734544 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/19734544 |