| http://purl.uniprot.org/citations/17194691 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17194691 | http://www.w3.org/2000/01/rdf-schema#comment | "Distal arthrogryposes (DAs) are a group of disorders characterized by congenital contractures of distal limbs without overt neurological or muscle disease. Unexpectedly, mutations in genes encoding the fast skeletal muscle regulatory proteins troponin T (TnT), troponin I (TnI), and beta-tropomyosin (beta-TM) have been shown to cause autosomal dominant DA. We tested how these mutations affect contractile function by comparing wild-type (WT) and mutant proteins in actomyosin ATPase assays and in troponin-replaced rabbit psoas fibers. We have analyzed all four reported mutants: Arg63His TnT, Arg91Gly beta-TM, Arg174Gln TnI, and a TnI truncation mutant (Arg156ter). Thin filaments, reconstituted using actin and WT troponin and beta-TM, activated myosin subfragment-1 ATPase in a calcium-dependent, cooperative manner. Thin filaments containing either a troponin or beta-TM DA mutant produced significantly enhanced ATPase rates at all calcium concentrations without alternating calcium-sensitivity or cooperativity. In troponin-exchanged skinned fibers, each mutant caused a significant increase in Ca2+ sensitivity, and Arg156ter TnI generated significantly higher maximum force. Arg91Gly beta-TM was found to have a lower actin affinity than WT and form a less stable coiled coil. We propose the mutations cause increased contractility of developing fast-twitch skeletal muscles, thus causing muscle contractures and the development of the observed limb deformities."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.org/dc/terms/identifier | "doi:10.1096/fj.06-6899com"xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/author | "Watkins H."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/author | "Robinson P."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/author | "Redwood C.S."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/author | "Ashley C.C."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/author | "Lipscomb S."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/author | "Preston L.C."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/author | "Altin E."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/date | "2007"xsd:gYear |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/name | "FASEB J"xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/pages | "896-905"xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/title | "Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function."xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://purl.uniprot.org/core/volume | "21"xsd:string |
| http://purl.uniprot.org/citations/17194691 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/17194691 |
| http://purl.uniprot.org/citations/17194691 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/17194691 |
| http://purl.uniprot.org/uniprot/P48788#attribution-3FE8ED8290188C11A15B0B1AAD64CF1B | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17194691 |
| http://purl.uniprot.org/uniprot/P48788#attribution-6C00F4C998D13C784BD831152EFE4D18 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17194691 |
| http://purl.uniprot.org/uniprot/P02585#attribution-3FE8ED8290188C11A15B0B1AAD64CF1B | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17194691 |
| http://purl.uniprot.org/uniprot/P45378#attribution-3FE8ED8290188C11A15B0B1AAD64CF1B | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17194691 |
| http://purl.uniprot.org/uniprot/P45378#attribution-6C00F4C998D13C784BD831152EFE4D18 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17194691 |
| http://purl.uniprot.org/uniprot/P07951#attribution-3FE8ED8290188C11A15B0B1AAD64CF1B | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/17194691 |