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 …
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 …
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
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 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
Ion channels in innate and adaptive immunity
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 …
lipid membranes. In immune cells, divalent cations such as calcium, magnesium, and zinc …
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 …
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 …
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 …
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 …
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 …
contraction of the heart. Its role in other tissues is unclear. Here we present Timothy …