Associated Papers
Inactivation of CaV1 and CaV2 channels.
Limpitikul WB et al.
The Journal of General Physiology, 2025
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Mahmood U et al.
Genes, 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
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
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Human Mutation, 2019
STIM1 phosphorylation at Y316 modulates its interaction with SARAF and the activation of SOCE and ICRAC.
Lopez E et al.
Journal of Cell Science, 2019
Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina.
Haeseleer F et al.
The Journal of Biological Chemistry, 2016
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons.
Krey JF et al.
Nature Neuroscience, 2013
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
Genotyping microarray for CSNB-associated genes.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2009
Modified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2.
Doering CJ et al.
Plos One, 2008
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Voltage-gated calcium channels in genetic diseases.
Bidaud I et al.
Biochimica Et Biophysica Acta, 2006
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
Zeitz C et al.
American Journal of Human Genetics, 2006
Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.
McKeown L et al.
Acta Pharmacologica Sinica, 2006
Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression.
Hoda JC et al.
Journal of Neurochemistry, 2006
Calcium channels and channelopathies of the central nervous system.
Pietrobon D
Molecular Neurobiology, 2002
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Strom TM et al.
Nature Genetics, 1998
The Ca(v)1.4 calcium channel: more than meets the eye.
Doering CJ et al.
Channels (austin, Tex.), 0