| http://purl.uniprot.org/citations/22366786 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22366786 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22366786 | http://www.w3.org/2000/01/rdf-schema#comment | "Limb-girdle muscular dystrophy type 1D (LGMD1D) was linked to chromosome 7q36 over a decade ago, but its genetic cause has remained elusive. Here we studied nine LGMD-affected families from Finland, the United States and Italy and identified four dominant missense mutations leading to p.Phe93Leu or p.Phe89Ile changes in the ubiquitously expressed co-chaperone DNAJB6. Functional testing in vivo showed that the mutations have a dominant toxic effect mediated specifically by the cytoplasmic isoform of DNAJB6. In vitro studies demonstrated that the mutations increase the half-life of DNAJB6, extending this effect to the wild-type protein, and reduce its protective anti-aggregation effect. Further, we show that DNAJB6 interacts with members of the CASA complex, including the myofibrillar myopathy-causing protein BAG3. Our data identify the genetic cause of LGMD1D, suggest that its pathogenesis is mediated by defective chaperone function and highlight how mutations in a ubiquitously expressed gene can exert effects in a tissue-, isoform- and cellular compartment-specific manner."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.1103"xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.1103"xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Hackman P."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Hackman P."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Jonson P.H."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Jonson P.H."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Palmio J."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Palmio J."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Sarparanta J."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Sarparanta J."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Udd B."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Udd B."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Vihola A."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Vihola A."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Stajich J.M."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Stajich J.M."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Tasca G."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Tasca G."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Huovinen S."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Huovinen S."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Katsanis N."xsd:string |
| http://purl.uniprot.org/citations/22366786 | http://purl.uniprot.org/core/author | "Katsanis N."xsd:string |