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The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
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.
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Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer NT, Tuluc P, Ortner NJ, Nikonishyna YV, Fernándes-Quintero ML, Liedl KR, Flucher BE, Cox H, Striessnig J.
Hofer NT, et al.
Mol Autism. 2020 Jan 8;11(1):4. doi: 10.1186/s13229-019-0310-4. eCollection 2020.
Mol Autism. 2020.
PMID: 31921405
Free PMC article.
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Stabilization of negative activation voltages of Cav1.3 L-Type Ca2+-channels by alternative splicing.
Hofer NT, Pinggera A, Nikonishyna YV, Tuluc P, Fritz EM, Obermair GJ, Striessnig J.
Hofer NT, et al.
Channels (Austin). 2021 Dec;15(1):38-52. doi: 10.1080/19336950.2020.1859260.
Channels (Austin). 2021.
PMID: 33380256
Free PMC article.
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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. Among authors: hofer nt.
Elife. 2022 Jul 6;11:e67464. doi: 10.7554/eLife.67464.
Elife. 2022.
PMID: 35792082
Free PMC article.
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RBP2 stabilizes slow Cav1.3 Ca2+ channel inactivation properties of cochlear inner hair cells.
Ortner NJ, Pinggera A, Hofer NT, Siller A, Brandt N, Raffeiner A, Vilusic K, Lang I, Blum K, Obermair GJ, Stefan E, Engel J, Striessnig J.
Ortner NJ, et al. Among authors: hofer nt.
Pflugers Arch. 2020 Jan;472(1):3-25. doi: 10.1007/s00424-019-02338-4. Epub 2019 Dec 17.
Pflugers Arch. 2020.
PMID: 31848688
Free PMC article.
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