The physiology, pathology, and pharmacology of voltage-gated calcium channels and their future therapeutic potential

GW Zamponi, J Striessnig, A Koschak… - Pharmacological …, 2015 - ASPET
Voltage-gated calcium channels are required for many key functions in the body. In this
review, the different subtypes of voltage-gated calcium channels are described and their …

Presynaptic calcium channels: specialized control of synaptic neurotransmitter release

AC Dolphin, A Lee - Nature Reviews Neuroscience, 2020 - nature.com
Chemical synapses are heterogeneous junctions formed between neurons that are
specialized for the conversion of electrical impulses into the exocytotic release of …

[HTML][HTML] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease

KJ Carss, G Arno, M Erwood, J Stephens… - The American Journal of …, 2017 - cell.com
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Ion channels in innate and adaptive immunity

S Feske, H Wulff, EY Skolnik - Annual review of immunology, 2015 - annualreviews.org
Ion channels and transporters mediate the transport of charged ions across hydrophobic
lipid membranes. In immune cells, divalent cations such as calcium, magnesium, and zinc …

Auditory neuropathy—neural and synaptic mechanisms

T Moser, A Starr - Nature Reviews Neurology, 2016 - nature.com
Sensorineural hearing impairment is the most common form of hearing loss, and
encompasses pathologies of the cochlea and the auditory nerve. Hearing impairment …

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

ME Brunkow, EW Jeffery, KA Hjerrild, B Paeper… - Nature …, 2001 - nature.com
Scurfy (sf) is an X-linked recessive mouse mutant resulting in lethality in hemizygous males
16–25 days after birth, and is characterized by overproliferation of CD4+ CD8–T …

Congenital stationary night blindness: an analysis and update of genotype–phenotype correlations and pathogenic mechanisms

C Zeitz, AG Robson, I Audo - Progress in retinal and eye research, 2015 - Elsevier
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

Structure and Regulation of Voltage-Gated Ca2+ Channels

WA Catterall - Annual review of cell and developmental biology, 2000 - annualreviews.org
▪ Abstract Voltage-gated Ca2+ channels mediate Ca2+ entry into cells in response to
membrane depolarization. Electrophysiological studies reveal different Ca2+ currents …

The molecular basis of human retinal and vitreoretinal diseases

W Berger, B Kloeckener-Gruissem… - Progress in retinal and eye …, 2010 - Elsevier
During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

[HTML][HTML] CaV1. 2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

I Splawski, KW Timothy, LM Sharpe, N Decher… - Cell, 2004 - cell.com
Abstract Ca V 1.2, the cardiac L-type calcium channel, is important for excitation and
contraction of the heart. Its role in other tissues is unclear. Here we present Timothy …