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 …
[HTML][HTML] Neuronal voltage-gated calcium channels: structure, function, and dysfunction
BA Simms, GW Zamponi - Neuron, 2014 - cell.com
Voltage-gated calcium channels are the primary mediators of depolarization-induced
calcium entry into neurons. There is great diversity of calcium channel subtypes due to …
calcium entry into neurons. There is great diversity of calcium channel subtypes due to …
Voltage-gated calcium channels
WA Catterall - Cold Spring Harbor perspectives in …, 2011 - cshperspectives.cshlp.org
Voltage-gated calcium (Ca2+) channels are key transducers of membrane potential
changes into intracellular Ca2+ transients that initiate many physiological events. There are …
changes into intracellular Ca2+ transients that initiate many physiological events. There are …
[HTML][HTML] The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …
include progressive and stationary conditions, with and without syndromic features. Many …
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 …
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 …