Associated Papers
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
Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels.
Heigl T et al.
Channels (austin, Tex.), 2023
Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.
Schaare D et al.
Genes, 2023
A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes.
Weston P et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2022
Cav1.4 dysfunction and congenital stationary night blindness type 2.
Koschak A et al.
Pflugers Archiv : European Journal of Physiology, 2021
Function of cone and cone-related pathways in CaV1.4 IT mice.
Zanetti L et al.
Scientific Reports, 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
Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels.
Williams B et al.
The Journal of Biological Chemistry, 2020
Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.
Liao X et al.
Molecular Brain, 2020
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.
Kimchi A et al.
Ophthalmic Genetics, 2019
Ca2+ Channels in Anterior Pituitary Somatotrophs: A Therapeutic Perspective.
Nussinovitch I
Endocrinology, 2018
Calcium channel gating.
Hering S et al.
Pflugers Archiv : European Journal of Physiology, 2018
Autism throughout genetics: Perusal of the implication of ion channels.
Daghsni M et al.
Brain and Behavior, 2018
Insights into channel dysfunction from modelling and molecular dynamics simulations.
Musgaard M et al.
Neuropharmacology, 2018
Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.
Waldner DM et al.
Biomed Research International, 2018
The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
Men CJ et al.
Molecular Vision, 2017
Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.
Dinet V et al.
Molecular Brain, 2016
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing.
Joiner ML et al.
Current Molecular Pharmacology, 2015
Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells.
Knoflach D et al.
Channels (austin, Tex.), 2015
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
Burtscher V et al.
Biochimica Et Biophysica Acta, 2014
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Michalakis S et al.
Human Molecular Genetics, 2014
Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.
Regus-Leidig H et al.
Plos One, 2014
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A et al.
Molecular Psychiatry, 2011
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Striessnig J et al.
Pflugers Archiv : European Journal of Physiology, 2010
Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses.
Specht D et al.
Investigative Ophthalmology & Visual Science, 2009
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
Hemara-Wahanui A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.
Hope CI et al.
Clinical & Experimental Ophthalmology, 2005
Molecular dynamics and mutational analysis of a channelopathy mutation in the IIS6 helix of Ca V 1.2.
Stary A et al.
Channels (austin, Tex.), 0
Pore stability and gating in voltage-activated calcium channels.
Hering S et al.
Channels (austin, Tex.), 0
The Ca(v)1.4 calcium channel: more than meets the eye.
Doering CJ et al.
Channels (austin, Tex.), 0
Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
Knoflach D et al.
Channels (austin, Tex.), 0
Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2.
Liu X et al.
Channels (austin, Tex.), 0