Dominant Action of <i>CLCN4</i> Neurodevelopmental Disease Variants in Heteromeric Endosomal ClC-3/ClC-4 Transporters

Variants in <i>CLCN3</i> and <i>CLCN4</i>, encoding the neuronal endosomal Cl⁻/H⁺ antiporters ClC-3 and ClC-4, are linked to neurodevelopmental disorders with broad phenotypic variability. Over sixty <i>CLCN4</i> variants have been functionally characterized, showing gain- or l...

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主要な著者:	Abraham Tettey-Matey, Alessandra Picollo, Francesca Sbrana, Maria Antonietta Coppola, Eugenia Rubino, Alice Giusto, Margherita Festa, Elena Angeli, Cristiana Picco, Raffaella Barbieri, Paola Gavazzo, Michael Pusch
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2025-12-01
シリーズ:	Cells
主題:	neurodevelopmental disorder endosome X-linked disease chloride transport CLC proteins
オンライン･アクセス:	https://www.mdpi.com/2073-4409/14/24/1973
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