| http://purl.uniprot.org/citations/17164264 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17164264 | http://www.w3.org/2000/01/rdf-schema#comment | "Sarcoglycan is a membrane-associated protein complex found at the plasma membrane of cardiomyocytes and skeletal myofibers. Recessive mutations of delta-sarcoglycan that eliminate expression, and therefore function, lead to cardiomyopathy and muscular dystrophy by producing instability of the plasma membrane. A dominant missense mutation in the gene encoding delta-sarcoglycan was previously shown to associate with dilated cardiomyopathy in humans. To investigate the mechanism of dominantly inherited cardiomyopathy, we generated transgenic mice that express the S151A delta-sarcoglycan mutation in the heart using the alpha-myosin heavy-chain gene promoter. Similar to the human delta-sarcoglycan gene mutation, S151A delta-sarcoglycan transgenic mice developed dilated cardiomyopathy at a young age with enhanced lethality. Instead of placement at the plasma membrane, delta-sarcoglycan was found in the nucleus of S151A delta-sarcoglycan cardiomyocytes. Retention of delta-sarcoglycan in the nucleus was accompanied by partial nuclear sequestration of beta- and gamma-sarcoglycan. Additionally, the nuclear-membrane-associated proteins, lamin A/C and emerin, were mislocalized throughout the nucleoplasm. Therefore, the S151A delta-sarcoglycan gene mutation acts in a dominant negative manner to produce trafficking defects that disrupt nuclear localization of lamin A/C and emerin, thus linking together two common mechanisms of inherited cardiomyopathy."xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddl453"xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/author | "McNally E.M."xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/author | "Earley J.U."xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/author | "Hadhazy M."xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/author | "Heydemann A."xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/author | "Demonbreun A."xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/pages | "355-363"xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/title | "Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes."xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://purl.uniprot.org/core/volume | "16"xsd:string |
| http://purl.uniprot.org/citations/17164264 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17164264 |
| http://purl.uniprot.org/citations/17164264 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/17164264 |
| http://purl.uniprot.org/uniprot/P11531#attribution-A22FBBE476354F1D35924DB764F93BA0 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17164264 |
| http://purl.uniprot.org/uniprot/O08579#attribution-A22FBBE476354F1D35924DB764F93BA0 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17164264 |
| http://purl.uniprot.org/uniprot/P48678#attribution-A22FBBE476354F1D35924DB764F93BA0 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17164264 |
| http://purl.uniprot.org/uniprot/P82349#attribution-A22FBBE476354F1D35924DB764F93BA0 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17164264 |
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| http://purl.uniprot.org/uniprot/P82348#attribution-A22FBBE476354F1D35924DB764F93BA0 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17164264 |
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