dc.date.accessioned | 2019-02-05T12:20:29Z | |
dc.date.available | 2019-10-05T22:46:19Z | |
dc.date.created | 2018-12-08T15:19:10Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | Yaddehi Gamage, Thilini Hansamali Gamage Gunnes, Gjermund Lee, Robert Hugh Louch, William Edward Holmgren, Asbjørn Bruton, Joseph D. Lengle, Emma Kolstad, Terje R Selnes Revold, Tobias Amundsen, Silja Svanstrøm Dalen, Knut Tomas Holme, Pål Andre Tjønnfjord, Geir Erland Christensen, Geir Arve Westerblad, Håkan Klungland, Arne Bergmeier, Wolfgang Misceo, Doriana Frengen, Eirik . STIM1 R304W causes muscle degeneration and impaired platelet activation in mice. Cell Calcium. 2018, 76, 87-100 | |
dc.identifier.uri | http://hdl.handle.net/10852/66394 | |
dc.description.abstract | STIM1 and ORAI1 regulate store-operated Ca2+ entry (SOCE) in most cell types, and mutations in these proteins have deleterious and diverse effects. We established a mouse line expressing the STIM1 R304 W gain-of-function mutation causing Stormorken syndrome to explore effects on organ and cell physiology. While STIM1 R304 W was lethal in the homozygous state, surviving mice presented with reduced growth, skeletal muscle degeneration, and reduced exercise endurance. Variable STIM1 expression levels between tissues directly impacted cellular SOCE capacity. In contrast to patients with Stormorken syndrome, STIM1 was downregulated in fibroblasts from Stim1R304W/R304W mice, which maintained SOCE despite constitutive protein activity. In studies using foetal liver chimeras, STIM1 protein was undetectable in homozygous megakaryocytes and platelets, resulting in impaired platelet activation and absent SOCE. These data indicate that downregulation of STIM1 R304 W effectively opposes the gain-of-function phenotype associated with this mutation, and highlight the importance of STIM1 in skeletal muscle development and integrity. | en_US |
dc.language | EN | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.title | STIM1 R304W causes muscle degeneration and impaired platelet activation in mice | en_US |
dc.type | Journal article | en_US |
dc.creator.author | Yaddehi Gamage, Thilini Hansamali Gamage | |
dc.creator.author | Gunnes, Gjermund | |
dc.creator.author | Lee, Robert Hugh | |
dc.creator.author | Louch, William Edward | |
dc.creator.author | Holmgren, Asbjørn | |
dc.creator.author | Bruton, Joseph D. | |
dc.creator.author | Lengle, Emma | |
dc.creator.author | Kolstad, Terje R Selnes | |
dc.creator.author | Revold, Tobias | |
dc.creator.author | Amundsen, Silja Svanstrøm | |
dc.creator.author | Dalen, Knut Tomas | |
dc.creator.author | Holme, Pål Andre | |
dc.creator.author | Tjønnfjord, Geir Erland | |
dc.creator.author | Christensen, Geir Arve | |
dc.creator.author | Westerblad, Håkan | |
dc.creator.author | Klungland, Arne | |
dc.creator.author | Bergmeier, Wolfgang | |
dc.creator.author | Misceo, Doriana | |
dc.creator.author | Frengen, Eirik | |
cristin.unitcode | 185,53,18,10 | |
cristin.unitname | Avdeling for medisinsk genetikk | |
cristin.ispublished | true | |
cristin.fulltext | postprint | |
cristin.qualitycode | 1 | |
dc.identifier.cristin | 1640642 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Cell Calcium&rft.volume=76&rft.spage=87&rft.date=2018 | |
dc.identifier.jtitle | Cell Calcium | |
dc.identifier.volume | 76 | |
dc.identifier.startpage | 87 | |
dc.identifier.endpage | 100 | |
dc.identifier.doi | http://dx.doi.org/10.1016/j.ceca.2018.10.001 | |
dc.identifier.urn | URN:NBN:no-69612 | |
dc.type.document | Tidsskriftartikkel | en_US |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 0143-4160 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/66394/2/Gamage_Stim1%2BR304W%2Bmouse_manuscript_W_Corrections.pdf | |
dc.type.version | AcceptedVersion | |