| http://purl.uniprot.org/citations/16055117 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16055117 | http://www.w3.org/2000/01/rdf-schema#comment | "The mechanism of disease in forms of congenital and limb girdle muscular dystrophy linked to mutations in the gene encoding for Fukutin-related protein (FKRP) has previously been associated with the mis-localisation of FKRP from the Golgi apparatus. In the present report, we have transfected V5-tagged Fukutin-related protein expression constructs into differentiated C2C12 myotubes and the tibialis anterior of normal mice. The transfection of either wild type (WT) or several mutant constructs (P448L, C318Y, L276I) into myotubes consistently showed clear co-localisation with GM130, a Golgi marker. In contrast, whilst WT and the L276I localised to the Golgi of Cos-7 cells, the P448L and C318Y was mis-localised in the majority of these undifferentiated cells. The injection of the same constructs into the tibialis anterior of mice resulted in similar localisation of both the WT and all the mutants. Immunolabelling of FKRP in the muscle of MDC1C and LGMD2I patients was found to be indistinguishable from normal controls. Overall, these data suggest that retention in the endoplasmic reticulum of FKRP is not the main mechanism of disease but that this may instead relate to a disruption of the functional activity of this putative enzyme with its substrate(s) in the Golgi."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.yexcr.2005.06.017"xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/author | "Brown S.C."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/author | "Muntoni F."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/author | "Torelli S."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/author | "Wells D.J."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/author | "Brockington M."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/author | "Dolatshad N.F."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/author | "Skordis L."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/author | "Wever U."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/date | "2005"xsd:gYear |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/name | "Exp Cell Res"xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/pages | "370-378"xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/title | "Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells."xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://purl.uniprot.org/core/volume | "309"xsd:string |
| http://purl.uniprot.org/citations/16055117 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16055117 |
| http://purl.uniprot.org/citations/16055117 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/16055117 |
| http://purl.uniprot.org/uniprot/#_Q9H9S5-mappedCitation-16055117 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16055117 |
| http://purl.uniprot.org/uniprot/Q9H9S5 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/16055117 |