Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1

Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1

Abstract Background Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N,...

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Main Authors: Jiraporn Ousingsawat, Khaoula Talbi, Hilario Gómez-Martín, Anne Koy, Alberto Fernández-Jaén, Hasan Tekgül, Esra Serdaroğlu, Juan Darío Ortigoza-Escobar, Rainer Schreiber, Karl Kunzelmann
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Medicine
Subjects:
Dystonia
TMEM16C
Anoctamin 3
ANO3
Ca2+ signaling
K+ channels
Online Access:https://doi.org/10.1186/s12916-024-03839-5
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