Ortner NJ - Search Results

1

Is Cav1.3 a feasible therapeutic target for a rare neurodevelopmental disorder?

Ortner NJ. Ortner NJ. Expert Opin Ther Targets. 2024 Dec 19:1-5. doi: 10.1080/14728222.2024.2442428. Online ahead of print. Expert Opin Ther Targets. 2024. PMID: 39670814 No abstract available.

2

Inactivation induced by pathogenic Ca_v1.3 L-type Ca²⁺-channel variants enhances sensitivity for dihydropyridine Ca²⁺ channel blockers.

Török F, Salamon S, Ortner NJ, Fernández-Quintero ML, Matthes J, Striessnig J. Török F, et al. Among authors: ortner nj. Br J Pharmacol. 2025 Jan;182(1):181-197. doi: 10.1111/bph.17357. Epub 2024 Oct 7. Br J Pharmacol. 2025. PMID: 39370994

3

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. Among authors: ortner nj. Neurol Genet. 2024 Sep 6;10(5):e200186. doi: 10.1212/NXG.0000000000200186. eCollection 2024 Oct. Neurol Genet. 2024. PMID: 39246741 Free PMC article.

4

A biallelic mutation in CACNA2D2 associated with developmental and epileptic encephalopathy affects calcium channel-dependent as well as synaptic functions of α₂δ-2.

Haddad S, Ablinger C, Stanika R, Hessenberger M, Campiglio M, Ortner NJ, Tuluc P, Obermair GJ. Haddad S, et al. Among authors: ortner nj. J Neurochem. 2025 Jan;169(1):e16197. doi: 10.1111/jnc.16197. Epub 2024 Aug 19. J Neurochem. 2025. PMID: 39161180 Free PMC article.

5

Novel protocol for multiple-dose oral administration of the L-type Ca²⁺ channel blocker isradipine in mice: A dose-finding pharmacokinetic study.

Theiner T, Ortner NJ, Oberacher H, Stojanovic G, Tuluc P, Striessnig J. Theiner T, et al. Among authors: ortner nj. Channels (Austin). 2024 Dec;18(1):2335469. doi: 10.1080/19336950.2024.2335469. Epub 2024 Apr 2. Channels (Austin). 2024. PMID: 38564754 Free PMC article.

6

Pathogenicity of de novo CACNA1D Ca²⁺ channel variants predicted from sequence co-variation.

Tang X, Ortner NJ, Nikonishyna YV, Fernández-Quintero ML, Kokot J, Striessnig J, Liedl KR. Tang X, et al. Among authors: ortner nj. Eur J Hum Genet. 2024 Sep;32(9):1065-1073. doi: 10.1038/s41431-024-01594-y. Epub 2024 Mar 29. Eur J Hum Genet. 2024. PMID: 38553610 Free PMC article.

7

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. JCI Insight. 2023 Oct 23;8(20):e162100. doi: 10.1172/jci.insight.162100. JCI Insight. 2023. PMID: 37698939 Free PMC article.

8

Ca_v 1.3-selective inhibitors of voltage-gated L-type Ca²⁺ channels: Fact or (still) fiction?

Filippini L, Ortner NJ, Kaserer T, Striessnig J. Filippini L, et al. Among authors: ortner nj. Br J Pharmacol. 2023 May;180(10):1289-1303. doi: 10.1111/bph.16060. Epub 2023 Mar 14. Br J Pharmacol. 2023. PMID: 36788128 Free PMC article. Review.

9

CACNA1D-Related Channelopathies: From Hypertension to Autism.

Ortner NJ. Ortner NJ. Handb Exp Pharmacol. 2023;279:183-225. doi: 10.1007/164_2022_626. Handb Exp Pharmacol. 2023. PMID: 36592224 Review.

10

Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies.

Török F, Tezcan K, Filippini L, Fernández-Quintero ML, Zanetti L, Liedl KR, Drexel RS, Striessnig J, Ortner NJ. Török F, et al. Among authors: ortner nj. Hum Mol Genet. 2023 Feb 19;32(5):847-859. doi: 10.1093/hmg/ddac248. Hum Mol Genet. 2023. PMID: 36208199 Free PMC article.

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