The human channel gating–modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome–like phenotype in mice

Germline de novo missense variants of the CACNA1D gene, encoding the pore-forming α1 subunit of Cav1.3 L-type Ca(2+) channels (LTCCs), have been found in patients with neurodevelopmental and endocrine dysfunction, but their disease-causing potential is unproven. These variants alter channel gating,...

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Detalles Bibliográficos
Autores principales: Ortner, Nadine J., Sah, Anupam, Paradiso, Enrica, Shin, Josef, Stojanovic, Strahinja, Hammer, Niklas, Haritonova, Maria, Hofer, Nadja T., Marcantoni, Andrea, Guarina, Laura, Tuluc, Petronel, Theiner, Tamara, Pitterl, Florian, Ebner, Karl, Oberacher, Herbert, Carbone, Emilio, Stefanova, Nadia, Ferraguti, Francesco, Singewald, Nicolas, Roeper, Jochen, Striessnig, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10619503/
https://www.ncbi.nlm.nih.gov/pubmed/37698939
http://dx.doi.org/10.1172/jci.insight.162100

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