| http://purl.uniprot.org/citations/17293538 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17293538 | http://www.w3.org/2000/01/rdf-schema#comment | "A novel single-nucleotide deletion in exon 100 of the RYR1 gene, corresponding to deletion of nucleotide 14,510 in the human RyR1 mRNA (c14510delA), was identified in a man with malignant hyperthermia and in his two daughters who were normal for malignant hyperthermia. This deletion results in a RyR1 protein lacking the last 202 amino acid residues. All three subjects heterozygotic for the mutated allele presented with a prevalence of type 1 fibres with central cores, although none experienced clinical signs of myopathy. Expression of the truncated protein resulted in non-functional RYR1 calcium release channels. Expression of wild-type and RyR1(R4836fsX4838) proteins resulted in heterozygotic release channels with overall functional properties similar to those of wild-type RyR1 channels. Nevertheless, small differences in sensitivity to calcium and caffeine were observed in heterotetrameric channels, which also presented an altered assembly/stability in sucrose-gradient centrifugation analysis. Altogether, these data suggest that altered RYR1 tetramer assembly/stability coupled with subtle chronic changes in Ca2+ homoeostasis over the long term may contribute to the development of core lesions and incomplete malignant hyperthermia susceptibility penetrance in individuals carrying this novel RYR1 mutation."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.org/dc/terms/identifier | "doi:10.1136/jmg.2006.043794"xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Angelini C."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Sorrentino V."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Rossi D."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Galli L."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Orrico A."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Tegazzin V."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Lorenzini S."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Dirksen R."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "De Smet P."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Lyfenko A."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Franci D."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/author | "Petrioli F."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/name | "J Med Genet"xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/pages | "e67"xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/title | "A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres."xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://purl.uniprot.org/core/volume | "44"xsd:string |
| http://purl.uniprot.org/citations/17293538 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17293538 |
| http://purl.uniprot.org/citations/17293538 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/17293538 |
| http://purl.uniprot.org/uniprot/#_B4DET7-mappedCitation-17293538 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17293538 |
| http://purl.uniprot.org/uniprot/#_G9I486-mappedCitation-17293538 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17293538 |
| http://purl.uniprot.org/uniprot/#_G9I593-mappedCitation-17293538 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/17293538 |