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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

CACNA1A, SCA6, alpha1A, Cav2.1, EA2, HPCA
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010] (from NCBI)
Top mentioned proteins: CAN, HAD, Alpha-1, AGE, Jos
Papers using CACNA1A antibodies
L-selectin from human, but not from mouse neutrophils binds directly to E-selectin
Supplier
Sackstein Robert et al., In The Journal of Cell Biology, 1996
... cell populations were isolated by cell sorting on a MoFlo apparatus (Cytomation) using fluorochrome-conjugated anti-CD34 mAb (HPCA-2) (Becton Dickinson) and anti-CD44 mAb (Hermes-1) ...
Identification of a major co-receptor for primary isolates of HIV-1
Supplier
Liu Yong-Jun et al., In The Journal of Experimental Medicine, 1995
... of different antigens on the lineage FITC-negative cells, the cells were stained with CD34-allophycocyanin (APC; HPCA-2; Becton Dickinson) and CD45RA-Tricolor (MEM 56; ...
Expression of different CD8 isoforms on distinct human lymphocyte subpopulations
Supplier
Spits Hergen et al., In The Journal of Experimental Medicine, 1990
... The enriched cells were incubated with antiCD34 FITC (HPCA-2 from Becton Dickinson, San Jose, CA) and ...
Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrsarcoma
Supplier
Mentzel Thomas et al., In Virchows Archiv, 1987
... HPCA-11:100BD Biosciences, San Jose, USA ...
Papers on CACNA1A
Calcium sensor regulation of the CaV2.1 Ca2+ channel contributes to short-term synaptic plasticity in hippocampal neurons.
New
Catterall et al., Seattle, United States. In Proc Natl Acad Sci U S A, Feb 2016
Regulation of voltage-gated CaV2.1 Ca(2+) channels by Ca(2+) sensor proteins induces facilitation of Ca(2+) currents and synaptic facilitation in cultured neurons expressing exogenous CaV2.1 channels.
Altered short-term synaptic plasticity and reduced muscle strength in mice with impaired regulation of presynaptic CaV2.1 Ca2+ channels.
New
Catterall et al., Seattle, United States. In Proc Natl Acad Sci U S A, Feb 2016
UNASSIGNED: Facilitation and inactivation of P/Q-type calcium (Ca(2+)) currents through the regulation of voltage-gated Ca(2+) (CaV) 2.1 channels by Ca(2+) sensor (CaS) proteins contributes to the facilitation and rapid depression of synaptic transmission in cultured neurons that transiently express CaV2.1 channels.
Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.
New
Kamińska et al., Warsaw, Poland. In Hum Genomics, Dec 2015
Three causative genes have been identified in familial hemiplegic migraine (FHM) families: CACNA1A, ATP1A2, and SCNA1A.
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay.
New
Ackerman et al., Rochester, United States. In Pediatr Neurol, Dec 2015
RESULTS: Whole exome sequencing revealed a p.P1353L variant in the CACNA1A gene, which encodes for the α1-subunit of the brain-specific P/Q-type calcium channel (CaV2.1).
Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration(1,2,3).
New
Watt et al., Montréal, Canada. In Eneuro, Nov 2015
Spinocerebellar ataxia type 6 (SCA6) is an autosomal-dominant cerebellar ataxia that has been associated with loss of cerebellar Purkinje cells.
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.
New
Impact
Klockgether et al., Bonn, Germany. In Lancet Neurol, Nov 2015
We aimed to study the long-term disease progression of the most common spinocerebellar ataxias: SCA1, SCA2, SCA3, and SCA6.
[Pharmacotherapy of Vestibular Disorders, Nystagmus and Cerebellar Disorders].
Review
New
Strupp et al., In Fortschr Neurol Psychiatr, Sep 2015
Aminopyridines are recommended for the treatment of downbeat nystagmus (two RCTs) and episodic ataxia type 2 (EA2, one RCT).
The future of computer-aided sperm analysis.
Review
New
Mortimer et al., Vancouver, Canada. In Asian J Androl, Jul 2015
The authors review the improved capabilities of two modern CASA platforms (Hamilton Thorne CASA-II and Microptic SCA6) and consider their current and future applications with particular reference to directing our focus towards using this technology to assess functional rather than simple descriptive characteristics of spermatozoa.
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
New
Impact
Khor et al., Singapore, Singapore. In Nat Genet, Apr 2015
We discovered a genome-wide significant association between a new locus (CACNA1A rs4926244) and increased susceptibility to XFS (odds ratio (OR) = 1.16,
Pharmacotherapy of vestibular and cerebellar disorders and downbeat nystagmus: translational and back-translational research.
Review
New
Brandt et al., München, Germany. In Ann N Y Acad Sci, Apr 2015
Aminopyridines are recommended for the treatment of downbeat nystagmus (two RCTs) and episodic ataxia type 2 (EA2, one RCT).
Parkinsonism in spinocerebellar ataxia.
Review
Jeon et al., Seoul, South Korea. In Biomed Res Int, 2014
SCA6 and SCA8 have also been reported with a PD-like phenotype.
From mice to men: lessons from mutant ataxic mice.
Review
Cendelin, Plzeň, Czech Republic. In Cerebellum Ataxias, 2013
Lurcher, Hot-foot, Purkinje cell degeneration, Nervous, Staggerer, Weaver, Reeler, and Scrambler mouse models and mouse models of SCA1, SCA2, SCA3, SCA6, SCA7, SCA23, DRPLA, Niemann-Pick disease and Friedreich ataxia are reviewed with special regard to cerebellar pathology, pathogenesis, functional changes and possible therapeutic influences, if any.
De novo mutations in epileptic encephalopathies.
Impact
Winawer et al., In Nature, 2013
Other genes with de novo mutations in this cohort include CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L.
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
Impact
Gomez et al., Chicago, United States. In Cell, 2013
Suppression of CACNA1A IRES function in SCA6 may be a potential therapeutic strategy.
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.
Impact
Klockgether et al., Bonn, Germany. In Lancet Neurol, 2013
Our aim was to study the preclinical stage of the most common SCAs: SCA1, SCA2, SCA3, and SCA6.
Molecular determinants of Gem protein inhibition of P/Q-type Ca2+ channels.
GeneRIF
Yang et al., New York City, United States. In J Biol Chem, 2012
Gem contains two candidate inhibitory sites, each capable of producing full inhibition of P/Q-type Ca(2+) channels.
Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas.
GeneRIF
Commons et al., Boston, United States. In Brain Res, 2012
This study demonistrated that cacna1a gene expression in mouse dorsal raphe nucleus
Lowering glucose level elevates [Ca2+]i in hypothalamic arcuate nucleus NPY neurons through P/Q-type Ca2+ channel activation and GSK3β inhibition.
GeneRIF
Long et al., Wuhan, China. In Acta Pharmacol Sin, 2012
Lowering glucose level enhances the activity of P/Q type Ca(2+)channels and elevates [Ca(2+)](i) level in hypothalamic arcuate nucleus neurons via inhibition of GSK3beta.
Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons.
GeneRIF
Cao et al., Saint Louis, United States. In J Neurophysiol, 2012
The results suggest a possible scenario through which FHM-1 mutations might increase the gain of the trigeminal nociceptive pathway.
Cav2.1 in cerebellar Purkinje cells regulates competitive excitatory synaptic wiring, cell survival, and cerebellar biochemical compartmentalization.
GeneRIF
Watanabe et al., Sapporo, Japan. In J Neurosci, 2012
Cav2.1 in Purkinje cells (PCs) is essential for competitive synaptic wiring, cell survival, and the establishment of precise boundaries and reciprocity of biochemical compartments in PCs.
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