Dystonia caused by ANO3 variants is due to attenuated Ca(2+) influx by ORAI1
ANO3 变异引起的肌张力障碍是由于 ORAI1 介导的 Ca(2+) 内流减弱所致。
期刊:BMC Medicine
影响因子:8.3
doi:10.1186/s12916-024-03839-5
Ousingsawat, Jiraporn; Talbi, Khaoula; Gómez-Martín, Hilario; Koy, Anne; Fernández-Jaén, Alberto; Tekgül, Hasan; Serdaroğlu, Esra; Ortigoza-Escobar, Juan Darío; Schreiber, Rainer; Kunzelmann, Karl