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De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder

Abstract Volume-regulated anion channels (VRACs) are multimeric proteins composed of different paralogs of the LRRC8 family. They are activated in response to hypotonic swelling, but little is known about their specific functions. We studied two human individuals with the same congenital syndrome af...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Mathieu Quinodoz, Sonja Rutz, Virginie Peter, Livia Garavelli, A Micheil Innes, Elena F Lehmann, Stephan Kellenberger, Zhong Peng, Angelica Barone, Belinda Campos-Xavier, Sheila Unger, Carlo Rivolta, Raimund Dutzler, Andrea Superti-Furga
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Springer Nature 2024-12-01
Rangatū:The EMBO Journal
Ngā marau:
Volume-regulated Anion Channels
Disease-causing Variants
Channel Activation
Urunga tuihono:https://doi.org/10.1038/s44318-024-00322-y
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