| http://purl.uniprot.org/citations/31365757 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31365757 | http://www.w3.org/2000/01/rdf-schema#comment | "Actinin-1 mutations cause dominantly inherited congenital macrothrombocytopenia (CMTP), with mutations in the actin-binding domain increasing actinin's affinity for F-actin. In this study, we examined nine CMTP-causing mutations in the calmodulin-like and rod domains of actinin-1. These mutations increase, to varying degrees, actinin's ability to bundle actin filaments in vitro. Mutations within the calmodulin-like domain decrease its thermal stability slightly but do not dramatically affect calcium binding, with mutant proteins retaining calcium-dependent regulation of filament bundling in vitro. The G764S and E769K mutations increase cytoskeletal association of actinin in cells, and all mutant proteins colocalize with F-actin in cultured HeLa cells. Thus, CMTP-causing actinin-1 mutations outside the actin-binding domain also increase actin association, suggesting a common molecular mechanism underlying actinin-1 related CMTP."xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.org/dc/terms/identifier | "doi:10.1002/1873-3468.13562"xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/author | "Murphy A."xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/author | "Young P.W."xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/author | "O'Sullivan L.R."xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/author | "Ajaykumar A.P."xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/author | "Dembicka K.M."xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/author | "Grennan E.P."xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/name | "FEBS Lett"xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/pages | "161-174"xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/title | "Investigation of calmodulin-like and rod domain mutations suggests common molecular mechanism for alpha-actinin-1-linked congenital macrothrombocytopenia."xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://purl.uniprot.org/core/volume | "594"xsd:string |
| http://purl.uniprot.org/citations/31365757 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31365757 |
| http://purl.uniprot.org/citations/31365757 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/31365757 |
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