| http://purl.uniprot.org/citations/32328638 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32328638 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32328638 | http://www.w3.org/2000/01/rdf-schema#comment | "Fragile-X mental retardation autosomal homologue-1 (FXR1) is a muscle-enriched RNA-binding protein. FXR1 depletion is perinatally lethal in mice, Xenopus, and zebrafish; however, the mechanisms driving these phenotypes remain unclear. The FXR1 gene undergoes alternative splicing, producing multiple protein isoforms and mis-splicing has been implicated in disease. Furthermore, mutations that cause frameshifts in muscle-specific isoforms result in congenital multi-minicore myopathy. We observed that FXR1 alternative splicing is pronounced in the serine- and arginine-rich intrinsically disordered domain; these domains are known to promote biomolecular condensation. Here, we show that tissue-specific splicing of fxr1 is required for Xenopus development and alters the disordered domain of FXR1. FXR1 isoforms vary in the formation of RNA-dependent biomolecular condensates in cells and in vitro. This work shows that regulation of tissue-specific splicing can influence FXR1 condensates in muscle development and how mis-splicing promotes disease."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.org/dc/terms/identifier | "doi:10.1083/jcb.201911129"xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.org/dc/terms/identifier | "doi:10.1083/jcb.201911129"xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Chen X."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Chen X."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Smith J.A."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Smith J.A."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Anderson P."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Anderson P."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Gladfelter A.S."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Gladfelter A.S."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Lyons S.M."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Lyons S.M."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Horb M.E."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Horb M.E."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Blue R.E."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Blue R.E."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Crutchley J."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Crutchley J."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Curry E.G."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Curry E.G."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Dundon S.E.R."xsd:string |
| http://purl.uniprot.org/citations/32328638 | http://purl.uniprot.org/core/author | "Dundon S.E.R."xsd:string |