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The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ, Sah A, Paradiso E, Shin J, Stojanovic S, Hammer N, Haritonova M, Hofer NT, Marcantoni A, Guarina L, Tuluc P, Theiner T, Pitterl F, Ebner K, Oberacher H, Carbone E, Stefanova N, Ferraguti F, Singewald N, Roeper J, Striessnig J. Ortner NJ, et al. Among authors: hofer nt. JCI Insight. 2023 Oct 23;8(20):e162100. doi: 10.1172/jci.insight.162100. JCI Insight. 2023. PMID: 37698939 Free PMC article.
Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers.
Calorio C, Gavello D, Guarina L, Salio C, Sassoè-Pognetto M, Riganti C, Bianchi FT, Hofer NT, Tuluc P, Obermair GJ, Defilippi P, Balzac F, Turco E, Bett GC, Rasmusson RL, Carbone E. Calorio C, et al. Among authors: hofer nt. J Physiol. 2019 Mar;597(6):1705-1733. doi: 10.1113/JP277487. Epub 2019 Jan 28. J Physiol. 2019. PMID: 30629744 Free PMC article.
β2-subunit alternative splicing stabilizes Cav2.3 Ca2+ channel activity during continuous midbrain dopamine neuron-like activity.
Siller A, Hofer NT, Tomagra G, Burkert N, Hess S, Benkert J, Gaifullina A, Spaich D, Duda J, Poetschke C, Vilusic K, Fritz EM, Schneider T, Kloppenburg P, Liss B, Carabelli V, Carbone E, Ortner NJ, Striessnig J. Siller A, et al. Among authors: hofer nt. Elife. 2022 Jul 6;11:e67464. doi: 10.7554/eLife.67464. Elife. 2022. PMID: 35792082 Free PMC article.