Disruption of ClC-3-mediated 2Cl − /H + exchange leads to behavioural deficits and thalamic atrophy

Abstract CLCN3 encodes ClC-3, an endosomal 2Cl⁻/H⁺ exchanger, with pathogenic variants causing a neurodevelopmental condition marked by developmental delays, intellectual disability, seizures, hyperactivity, anxiety, and brain and retinal abnormalities. Clcn3 −/− mice show hippocampal and retinal de...

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Hlavní autoři:	Carina Balduin, Guanxiao Qi, Michael Schöneck, Verena Trinkel, Sarah Schemmert, Gustavo A. Guzman, Stefanie Bungert-Plümke, Malte Klüssendorf, Bernd Neumaier, Dirk Feldmeyer, N. Jon Shah, Tobias Stauber, Karl-Josef Langen, Raul E. Guzman, Antje Willuweit
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2025-09-01
Edice:	Scientific Reports
Témata:	CLCN3 Chloride/proton exchanger Action potentials Thalamic neurodegeneration Behavioural deficits
On-line přístup:	https://doi.org/10.1038/s41598-025-19757-2
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