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...

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Principais autores:	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
Format:	Artigo
Jezik:	Inglês
Izdano:	Springer Nature 2024-12-01
Serija:	The EMBO Journal
Teme:	Volume-regulated Anion Channels Disease-causing Variants Channel Activation
Online dostop:	https://doi.org/10.1038/s44318-024-00322-y
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