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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. Elife. 2022 Jul 6;11:e67464. doi: 10.7554/eLife.67464. Elife. 2022. PMID: 35792082 Free PMC article.
Calcium current modulation by the γ1 subunit depends on alternative splicing of CaV1.1.
El Ghaleb Y, Ortner NJ, Posch W, Fernández-Quintero ML, Tuinte WE, Monteleone S, Draheim HJ, Liedl KR, Wilflingseder D, Striessnig J, Tuluc P, Flucher BE, Campiglio M. El Ghaleb Y, et al. J Gen Physiol. 2022 Sep 5;154(9):e202113028. doi: 10.1085/jgp.202113028. Epub 2022 Mar 29. J Gen Physiol. 2022. PMID: 35349630 Free PMC article.
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F, Von Moers A, Bittigau P, Lange J, Wiegand S, Török F, Stölting G, Striessnig J, Motazacker MM, Broekema MF, Schuelke M, Kaindl AM, Scholl UI, Ortner NJ. Dannenberg F, et al. Neurol Genet. 2024 Sep 6;10(5):e200186. doi: 10.1212/NXG.0000000000200186. eCollection 2024 Oct. Neurol Genet. 2024. PMID: 39246741 Free PMC article.