Associated Papers
Aberrant calcium signaling and neuronal activity in the L271H CACNA1D (Cav1.3) iPSC model of neurodevelopmental disease.
Tisch M et al.
Molecular Psychiatry, 2026
Quantitative Proteomics Identifies Potential Molecular Adaptations in Mouse Models of Congenital Stationary Night Blindness Type 2.
Ganglberger M et al.
Molecular & Cellular Proteomics : Mcp, 2025
Gating of hair cell Ca2+ channels governs the activity of cochlear neurons.
Karagulyan N et al.
Science Advances, 2025
Inactivation of CaV1 and CaV2 channels.
Limpitikul WB et al.
The Journal of General Physiology, 2025
Inactivation induced by pathogenic Cav1.3 L-type Ca2+-channel variants enhances sensitivity for dihydropyridine Ca2+ channel blockers.
Török F et al.
British Journal of Pharmacology, 2025
A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Dannenberg F et al.
Neurology. Genetics, 2024
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation.
Tang X et al.
European Journal of Human Genetics : Ejhg, 2024
L-type calcium channels and neuropsychiatric diseases: Insights into genetic risk variant-associated genomic regulation and impact on brain development.
Baker MR et al.
Channels (austin, Tex.), 2023
Isradipine therapy in Cacna1dIle772Met/+ mice ameliorates primary aldosteronism and neurologic abnormalities.
Stölting G et al.
Jci Insight, 2023
The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice.
Ortner NJ et al.
Jci Insight, 2023
Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.
Rinné S et al.
International Journal of Molecular Sciences, 2022
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
The effect of alterations of schizophrenia-associated genes on gamma band oscillations.
Metzner C et al.
Schizophrenia (heidelberg, Germany), 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.
Sadeh TT et al.
Frontiers in Genetics, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 2021
Cav1.2 channelopathies causing autism: new hallmarks on Timothy syndrome.
Marcantoni A et al.
Pflugers Archiv : European Journal of Physiology, 2020
Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.
Liao X et al.
Molecular Brain, 2020
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer NT et al.
Molecular Autism, 2020
Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2-neo mouse rescued by L-type calcium channel blockers.
Calorio C et al.
The Journal of Physiology, 2019
Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.
Mäki-Marttunen T et al.
Cerebral Cortex (new York, N.y. : 1991), 2019
Timeline of Advances in Genetics of Primary Aldosteronism.
Meyer LS et al.
Experientia Supplementum (2012), 2019
Autism throughout genetics: Perusal of the implication of ion channels.
Daghsni M et al.
Brain and Behavior, 2018
Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels.
Pinggera A et al.
Channels (austin, Tex.), 2018
Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.
Mäki-Marttunen T et al.
Translational Psychiatry, 2017
Cav 1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders.
Pinggera A et al.
The Journal of Physiology, 2016
An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca(2+)-dependent regulation.
Limpitikul WB et al.
Scientific Reports, 2016
CACNA1D de novo mutations in autism spectrum disorders activate Cav1.3 L-type calcium channels.
Pinggera A et al.
Biological Psychiatry, 2015
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S et al.
Nature, 2014