Associated Papers
Inactivation of CaV1 and CaV2 channels.
Limpitikul WB et al.
The Journal of General Physiology, 2025
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
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 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
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
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
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
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
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Wutz K et al.
European Journal of Human Genetics : Ejhg, 2002
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
RGS3 and IL1RAPL1 missense variants implicate defective neurotransmission in early-onset inherited schizophrenias.
Kanwal A et al.
Journal of Psychiatry & Neuroscience : Jpn, 0