| http://purl.uniprot.org/citations/23332920 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23332920 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23332920 | http://www.w3.org/2000/01/rdf-schema#comment | "Tubular aggregates are regular arrays of membrane tubules accumulating in muscle with age. They are found as secondary features in several muscle disorders, including alcohol- and drug-induced myopathies, exercise-induced cramps, and inherited myasthenia, but also exist as a pure genetic form characterized by slowly progressive muscle weakness. We identified dominant STIM1 mutations as a genetic cause of tubular-aggregate myopathy (TAM). Stromal interaction molecule 1 (STIM1) is the main Ca(2+) sensor in the endoplasmic reticulum, and all mutations were found in the highly conserved intraluminal Ca(2+)-binding EF hands. Ca(2+) stores are refilled through a process called store-operated Ca(2+) entry (SOCE). Upon Ca(2+)-store depletion, wild-type STIM1 oligomerizes and thereby triggers extracellular Ca(2+) entry. In contrast, the missense mutations found in our four TAM-affected families induced constitutive STIM1 clustering, indicating that Ca(2+) sensing was impaired. By monitoring the calcium response of TAM myoblasts to SOCE, we found a significantly higher basal Ca(2+) level in TAM cells and a dysregulation of intracellular Ca(2+) homeostasis. Because recessive STIM1 loss-of-function mutations were associated with immunodeficiency, we conclude that the tissue-specific impact of STIM1 loss or constitutive activation is different and that a tight regulation of STIM1-dependent SOCE is fundamental for normal skeletal-muscle structure and function."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.12.007"xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2012.12.007"xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Boehm J."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Boehm J."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Fardeau M."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Fardeau M."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Laporte J."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Laporte J."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Romero N.B."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Romero N.B."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Ebel C."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Ebel C."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Levy N."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Levy N."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Koch C."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Koch C."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Figarella-Branger D."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Figarella-Branger D."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Chevessier F."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Chevessier F."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Eymard B."xsd:string |
| http://purl.uniprot.org/citations/23332920 | http://purl.uniprot.org/core/author | "Eymard B."xsd:string |