| http://purl.uniprot.org/citations/28592461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28592461 | http://www.w3.org/2000/01/rdf-schema#comment | "The 5' splice site mutation (IVS20+6T>C) of the inhibitor of κ light polypeptide gene enhancer in B cells, kinase complex-associated protein (IKBKAP) gene in familial dysautonomia (FD) is at the sixth intronic nucleotide of the 5' splice site. It is known to weaken U1 snRNP recognition and result in an aberrantly spliced mRNA product in neuronal tissue, but normally spliced mRNA in other tissues. Aberrantly spliced IKBKAP mRNA abrogates IKK complex-associated protein (IKAP)/elongator protein 1 (ELP1) expression and results in a defect of neuronal cell development in FD. To elucidate the tissue-dependent regulatory mechanism, we screened an expression library of major RNA-binding proteins (RBPs) with our mammalian dual-color splicing reporter system and identified RBM24 as a regulator. RBM24 functioned as a cryptic intronic splicing enhancer binding to an element (IVS20+13-29) downstream from the intronic 5' splice site mutation in the IKBKAP gene and promoted U1 snRNP recognition only to the mutated 5' splice site (and not the wild-type 5' splice site). Our results show that tissue-specific expression of RBM24 can explain the neuron-specific aberrant splicing of IKBKAP exon 20 in familial dysautonomia, and that ectopic expression of RBM24 in neuronal tissue could be a novel therapeutic target of the disease."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.org/dc/terms/identifier | "doi:10.1261/rna.059428.116"xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Ninomiya K."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Sako Y."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Yoshida M."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Okuno Y."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Hosokawa M."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Sakuma M."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Hagiwara M."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Usui T."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Ohe K."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Kataoka N."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Nojima T."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/author | "Nakano-Kobayashi A."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/name | "RNA"xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/pages | "1393-1403"xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/title | "RBM24 promotes U1 snRNP recognition of the mutated 5' splice site in the IKBKAP gene of familial dysautonomia."xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/28592461 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28592461 |
| http://purl.uniprot.org/citations/28592461 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/28592461 |
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| http://purl.uniprot.org/uniprot/#_B7Z6B4-mappedCitation-28592461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28592461 |
| http://purl.uniprot.org/uniprot/#_B7Z6B7-mappedCitation-28592461 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/28592461 |