| http://purl.uniprot.org/citations/20863723 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20863723 | http://www.w3.org/2000/01/rdf-schema#comment | "We describe a new approach to stabilize nonsense mRNA, based on the inhibition of the NMD mechanism, by combining cycloheximide-mediated inhibition of translation, and caffeine-mediated inhibition of UPF1 phosphorylation. This approach aimed to identify the impact of a 4.1R splicing mutation. This mutation is involved in a partial deficiency of 4.1R in the homozygous state in a patient with hereditary elliptocytosis and a moderated hemolytic anemia. We show that, in addition to two known minor shortened and stable spliceoforms, the mutation activates an intronic cryptic splice site, which results in a nonsense mRNA major isoform, targeted to degradation in intact cells by NMD. This accounts for the main cause of 4.1R partial deficiency. In a general perspective, blocking the NMD mechanism would help to identify a missing isoform, and pave the path for a molecular targeting strategy to circumvent a deleterious splicing pathway in favor of a therapeutic splicing pathway."xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.bcmd.2010.08.011"xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/author | "Delaunay J."xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/author | "Calender A."xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/author | "Baklouti F."xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/author | "Ribeiro L."xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/author | "Delhommeau F."xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/author | "Moriniere M."xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/name | "Blood Cells Mol Dis"xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/pages | "284-288"xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/title | "Nonsense-mediated mRNA decay (NMD) blockage promotes nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis."xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://purl.uniprot.org/core/volume | "45"xsd:string |
| http://purl.uniprot.org/citations/20863723 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20863723 |
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