Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels

Recently, we and others identified somatic and germline de novo gain-of-function mutations in CACNA1D, the gene encoding the α1-subunit of voltage-gated Cav1.3 Ca2+-channels. While somatic mutations identified in aldosterone producing adenomas (APAs) underlie treatment-resistant hypertension, germli...

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Autors principals:	Alexandra Pinggera, Giulia Negro, Petronel Tuluc, Morris J. Brown, Andreas Lieb, Jörg Striessnig
Format:	Artigo
Idioma:	Inglês
Publicat:	Taylor & Francis Group 2018-01-01
Col·lecció:	Channels
Matèries:	Aldosterone producing adenomas autism spectrum disorder Ca2+ channel CACNA1D mutation
Accés en línia:	https://www.tandfonline.com/doi/10.1080/19336950.2018.1546518
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