Additional file 1 of Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1
Makaleler > Tam Makale · 2025
Yazarlar: Ousingsawat, Jiraporn, Talbi, Khaoula, Gómez-Martín, Hilario, Koy, Anne, Fernández-Jaén, Alberto, Tekgül, Hasan, Serdaroğlu, Esra, Ortigoza-Escobar, Juan Darío, Schreiber, Rainer, Kunzelmann, Karl
Figshare, Uluslararası, 2025
DOI: 10.6084/m9.figshare.28157603.v1
Özet
Additional file 1. Enhanced basal phospholipid scrambling in fibroblasts from a dystonia patient heterozygous for S651N.Annexin V (AnxV) staining of phosphatidylserine (PS) exposed in the outer leaflet of the plasma membrane. In skin fibroblasts from a healthy volunteer, no PS could be stained (left panel), while in fibroblasts from a dystonia patient heterozygous for S651N, a spotted PS labeling was observed (right panel). Bar = 20 µm