Genomes and Genes
Gene Symbol: Cacna1a
Description: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Alias: APCA, Caca1a, Cacnl1a4, Cav2.1, Ccha1a, EA2, FHM, HPCA, MHP, MHP1, SCA6, alpha1A, nmf352, rkr, smrl, voltage-dependent P/Q-type calcium channel subunit alpha-1A, brain calcium channel I, calcium channel, L type, alpha-1 polypeptide, leaner, rocker, tottering, voltage-gated calcium channel subunit alpha Cav2.1
Publications121 found, 100 shown here
- Development of the paramedian lobule of the cerebellum in wild-type and tottering miceK R Isaacs
Neuroscience Program, University of Illinois, Urbana
Dev Neurosci 14:386-93. 1992The mutant mouse tottering, (tg/tg), and the compound heterozygote mouse (tg/tg1a) exhibit three neurological disorders: ataxia, petit mal-like absence seizures and myoclonic intermittent movement disorders which are independent of the ..
- Striatal dysfunction in Rolling mouse Nagoya: an electrophysiological studyH Tomoda
Department of Clinical Neurophysiology, Faculty of Medicine, Kyushu University, Fukuoka, Japan
J Neurol Sci 112:106-12. 1992..These results are in agreement with our previously reported findings of increased glucose metabolism and reduced concentration of GABA in the GP and substantia nigra pars reticula (SNr) in rolling.(ABSTRACT TRUNCATED AT 250 WORDS)..
- A single gene error of noradrenergic axon growth synchronizes central neuronesJ L Noebels
Nature 310:409-11. 1984..An interesting mutation, the Tottering (tg) gene, causes a delayed onset, recessive neurological disorder in the mouse featuring a stereotyped triad of ..
- Cerebellar volume decreases in the tottering mouse are specific to the molecular layerK R Isaacs
NIMH, Laboratory of Clinical Science, Bethesda, MD 20892
Brain Res Bull 36:309-14. 1995The volume of the cerebellum as a whole and the volume of the molecular layer per Purkinje cell in adult tottering (tg/tg) and tottering/leaner (tg/tg(la)) mice were reduced when compared with normal age-matched wild type mice (+/+)...
- Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1aT A Zwingman
Department of Neuroscience, University Alzheimer Center, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
J Neurosci 21:1169-78. 2001..to mouse chromosome 8 within 2 centimorgans of the calcium channel alpha1a subunit (Cacna1a, formerly known as tottering) locus...
- The calcium channel alpha2delta-2 subunit partitions with CaV2.1 into lipid rafts in cerebellum: implications for localization and functionAnthony Davies
Department of Pharmacology, University College London, London WC1E 6BT, United Kingdom
J Neurosci 26:8748-57. 2006..Together, these results indicate that both alpha2delta-2 and CaV2.1 are normally associated with cholesterol-rich microdomains, and this influences their functionality...
- Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1Katharina Eikermann-Haerter
Stroke and Neurovascular Regulation Laboratory, Massachusetts General Hospital, Charlestown, MA 02129, USA
J Clin Invest 119:99-109. 2009..As with other types of migraine, it affects women more frequently than men. FHM1 is caused by mutations in the CACNA1A gene, which encodes the alpha1A subunit of Cav2...
- Antinociceptive effect of different types of calcium channel inhibitors and the distribution of various calcium channel alpha 1 subunits in the dorsal horn of spinal cord in miceManabu Murakami
Department of Pharmacology, Akita University School of Medicine, 1 1 1 Hondoh, Akita 010 8543, Japan
Brain Res 1024:122-9. 2004..The results of this study revealed the localization and functions of several calcium channels that are involved in nociceptive neurotransmission within the dorsal horn of the mouse spinal cord...
- Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head traumaAngelita Tottene
Department of Biomedical Sciences, University of Padova, CNR Institute of Neuroscience, Viale G Colombo 3, 35121 Padova, Italy
J Biol Chem 280:17678-86. 2005..Ca(2+) channels produces a severe clinical phenotype in which typical attacks of familial hemiplegic migraine (FHM) triggered by minor head trauma are followed, after a lucid interval, by deep (even fatal) coma and long lasting ..
- Cav2.1 in cerebellar Purkinje cells regulates competitive excitatory synaptic wiring, cell survival, and cerebellar biochemical compartmentalizationTaisuke Miyazaki
Department of Anatomy, Hokkaido University School of Medicine, Sapporo 060 8638, Japan
J Neurosci 32:1311-28. 2012..1 KO mice. Therefore, Cav2.1 in PCs is essential for competitive synaptic wiring, cell survival, and the establishment of precise boundaries and reciprocity of biochemical compartments in PCs...
- Functional compensation by other voltage-gated Ca2+ channels in mouse basal forebrain neurons with Ca(V)2.1 mutationsJason A Etheredge
Department of Medical Pharmacology and Toxicology, College of Medicine, Reynolds Medical Science Building, Texas A and M University System Health Science Center, 1114 TAMU, College Station, TX 77843 1114, USA
Brain Res 1140:105-19. 2007b>Tottering (tg/tg) and leaner (tg(la)/tg(la)) mutant mice exhibit distinct mutations in the gene encoding the voltage-activated Ca(2+) channel alpha(1A) subunit (CACNA1A), the pore-forming subunit of the Ca(V)2...
- Conditional inactivation of the Cacna1a gene in transgenic miceBoyan Todorov
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
Genesis 44:589-94. 2006..Mutations in the CACNA1A gene, encoding the pore forming alpha(1) subunit of Ca(v)2...
- Ataxic mouse mutants and molecular mechanisms of absence epilepsyC F Fletcher
MGL, ABL BRP, NCI Frederick Cancer Research and Development Center, Frederick, MD, USA
Hum Mol Genet 8:1907-12. 1999..Then, from the new wave of genetic and functional studies of these mutants we discuss their prospects for yielding insight into the molecular mechanisms of epilepsy...
- Novel Cav2.1 splice variants isolated from Purkinje cells do not generate P-type Ca2+ currentTaiji Tsunemi
Department of Pharmacology and Neurobiology, Graduate School of Medicine, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
J Biol Chem 277:7214-21. 2002The alpha(1)2.1 (alpha(1A)) subunits of P-type and Q-type Ca(2+) channels are encoded by a single gene, Cacna1a. Although these channels differ in the inactivation kinetics and sensitivity to omega-agatoxin IVA, the mechanism underlying ..
- Decreased gene expression of calretinin and ryanodine receptor type 1 in tottering miceM Cicale
Department of Neuroscience and Behavioral Sciences, Unit of Molecular Psychiatry, Section of Psychiatry, University School of Medicine Federico II, Naples, Italy
Brain Res Bull 59:53-8. 2002b>Tottering mice are a spontaneously occurring animal model of human absence epilepsy. They carry a mutation in the P/Q-type calcium channel alpha1A subunit gene which is highly expressed by cerebellar Purkinje cells...
- Differential expression of alpha 1 and beta subunits of voltage dependent Ca2+ channel at the neuromuscular junction of normal and P/Q Ca2+ channel knockout mouseR Pagani
Departamento de Fisiologia, Biología Celular y Molecular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
Neuroscience 123:75-85. 2004....
- Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cellsHironao Saegusa
Department of Pharmacology and Neurobiology, Graduate School of Medicine, Tokyo Medical and Dental University, 1 5 45 Yushima, Tokyo 113 8519, Japan
Mol Cell Neurosci 34:261-70. 2007Spinocerebellar ataxia type 6 (SCA6) is caused by polyglutamine expansion in P/Q-type Ca2+ channels (Ca(v)2.1) and is characterized by predominant degeneration of cerebellar Purkinje cells. To characterize the Ca(v)2...
- Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1AG Xie
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
Genes Brain Behav 6:717-27. 2007..more closely resembles patterns of CACNA1A mutation in humans than previously described mouse recessive mutants (tottering, leaner, rolling Nagoya and rocker)...
- Analysis of calcium ion homeostasis and mitochondrial function in cerebellar granule cells of adult CaV 2.1 calcium ion channel mutant miceBhupinder Bawa
Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biosciences, Texas A and M University, College Station, TX 77843 4458, USA
Neurotox Res 13:1-18. 2008..We study leaner and tottering mice, which carry autosomal recessive mutations in the gene coding for the alpha 1A pore-forming subunit of CaV ..
- Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca(2+) channel mutationJ J Plomp
Department of Physiology, Leiden University Medical Centre, Leiden, The Netherlands
Brain 123:463-71. 2000..b>Tottering (tg) alpha(1A) mutant mice display ataxia and epilepsy...
- Regional difference in corticotropin-releasing factor immunoreactivity in mossy fiber terminals innervating calretinin-immunoreactive unipolar brush cells in vestibulocerebellum of rolling mouse NagoyaMasahiro Ando
Department of Otolaryngology, University of Tokushima Graduate School Institute of Health Biosciences, Tokushima 770 8503, Japan
Brain Res 1063:96-101. 2005..CRF may alter CR-positive UBC-mediated excitatory pathways in the lobule X of RMN and may disturb functions of the lobule X such as cerebellar adaptation for linear motion of the head...
- Characterization of acetylcholine release and the compensatory contribution of non-Ca(v)2.1 channels at motor nerve terminals of leaner Ca(v)2.1-mutant miceS Kaja
Department of Neurology, Leiden University Medical Centre, P O Box 9600, 2300 RC Leiden, The Netherlands
Neuroscience 144:1278-87. 2007The severely ataxic and epileptic mouse leaner (Ln) carries a natural splice site mutation in Cacna1a, leading to a C-terminal truncation of the encoded Ca(v)2.1 alpha(1) protein. Ca(v)2...
- Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologiesT Miki
Laboratory of Molecular Biology, Department of Synthetic Chemistry and Biological Chemistry, Graduate School of Engineering, Kyoto University, Kyoto, Japan
Neuroscience 155:31-44. 2008..The mouse homologue, Cacna1a, is associated with the tottering, Cacna1a(tg), mutant series. Here we describe two new missense mutant alleles, Cacna1a(tg-4J) and Cacna1a(Tg-5J)...
- Expression of tyrosine hydroxylase in cerebellar Purkinje neurons of the mutant tottering and leaner mouseM C Austin
Unit on Behavioral Neuropharmarcology, National Institute of Mental Health, Bethesda, MD 20892
Brain Res Mol Brain Res 15:227-40. 1992..tyrosine hydroxylase (TH) mRNA concentrations and immunoreactivity in the locus coeruleus and cerebellum of the tottering (tg/tg), leaner (tgla/tgla), compound heterozygous (tg/tgla) and wild type control (+/+) mice, bred on a C57BL/..
- Neurotransmitter receptors of the rolling mouse Nagoya: a quantitative autoradiographic studyH Onodera
Department of Neurology, Tohoku University School of Medicine, Sendai, Japan
Neurosci Res 5:316-24. 1988..These results suggest that neurochemical alterations in the caudate-putamen as well as in the cerebellar cortex play important roles in the ataxia and motor dysfunction of the RMN...
- [The observation of rolling mouse Nagoya (rol), a new neurological mutant, and its maintenance (author's transl)]S Oda
Jikken Dobutsu 22:281-8. 1973
- Neurotransmitter abnormality in Rolling mouse Nagoya, an ataxic mutant mouseO Muramoto
Brain Res 215:295-304. 1981....
- Cerebellar cell degeneration in the leaner mutant mouseK Herrup
Neuroscience 7:2185-96. 1982..It is hoped that this developmental sketch of the leaner defect will stimulate others to approach leaner and its alleles, tottering and rolling, as models for heterogeneity of disease expression.
- Anti-ataxic effects of TRH and its analogue, TA-0910, in Rolling mouse Nagoya by metabolic normalization of the ventral tegmental areaK Kinoshita
Pharmaceutical Development Research Laboratory, Tanabe Seiyaku Co, Ltd, Saitama, Japan
Br J Pharmacol 116:3274-8. 1995..4. These results suggest that the ataxia of the rolling mouse may be due to dysfunction of the cerebellum and VTA, and that amelioration by TRH and TA-0910 could result from metabolic normalization of the VTA...
- Increased preproenkephalin mRNA and preprotachykinin mRNA in the striatum of Rolling mouse NagoyaT Taniwaki
Department of Neurology, Neurological Institute, Kyushu University, Maidashi, Higashi ku, Fukuoka City, Fukuoka 812, Japan
Brain Res 714:231-4. 1996..These findings support the hypothesis that the site of primary dysfunction in the basal ganglia is in the striatum of RMN...
- Absence epilepsy in tottering mutant mice is associated with calcium channel defectsC F Fletcher
Mammalian Genetics Laboratory, NCI Frederick Cancer Research and Development Center, Frederick, Maryland 21702, USA
Cell 87:607-17. 1996Mutations at the mouse tottering (tg) locus cause a delayed-onset, recessive neurological disorder resulting in ataxia, motor seizures, and behavioral absence seizures resembling petit mal epilepsy in humans...
- Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant miceJ Doyle
Biology Division, Oak Ridge National Laboratory, Tennessee 37831 8077, USA
Mamm Genome 8:113-20. 1997b>Tottering and leaner, two mutations of the mouse tottering locus, have been studied extensively as models for human epilepsy...
- Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant miceL S Dove
Department of Medical Pharmacology and Toxicology, College of Medicine, Texas A and M University Health Science Center, College Station, Texas 77843 1114, USA
J Neurosci 18:7687-99. 1998..cloning has revealed that the tgla mutation occurs in a gene encoding the voltage-activated calcium channel alpha1A subunit...
- Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channelM Wakamori
Department of Information Physiology, National Institute for Physiological Sciences, Okazaki, Aichi 444 8585, Japan
J Biol Chem 273:34857-67. 1998..Homozygous ataxic mice, tottering (tg) and leaner (tgla) mice, have mutations in the P/Q-type Ca2+ channel alpha1A subunit gene...
- L-type calcium channels contribute to the tottering mouse dystonic episodesD B Campbell
Department of Neuroscience and Anatomy, Pennsylvania State University College of Medicine, Hershey, Pennsylvania 17033, USA
Mol Pharmacol 55:23-31. 1999b>Tottering mice inherit a recessive mutation of the calcium channel alpha1A subunit that causes ataxia, polyspike discharges, and intermittent dystonic episodes...
- Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalamiS J Caddick
Department of Neurology, Medical College of Virginia, Richmond, Virginia 23298, USA
J Neurophysiol 81:2066-74. 1999Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami...
- Morphologic investigation of rolling mouse Nagoya (tg(rol)/tg(rol)) cerebellar Purkinje cells: an ataxic mutant, revisitedI J Rhyu
Institute of Human Genetics and Department of Anatomy, Korea University College of Medicine, Seoul, South Korea
Neurosci Lett 266:49-52. 1999..Two alleles of the rolling mutation, tottering (tg) and leaner(tg(la)), have been identified as mutations in the voltage-dependent calcium channel alpha1A ..
- Presynaptic Ca(2+) influx at a mouse central synapse with Ca(2+) channel subunit mutationsJ Qian
Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
J Neurosci 20:163-70. 2000..presynaptic Ca(2+) currents and neurotransmitter release at hippocampal Schaffer collateral synapses in both tottering (tg, alpha(1A) subunit) and lethargic (lh, beta(4) subunit) mutant mice...
- Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant backgroundD B Campbell
Department of Neuroscience and Anatomy, Pennsylvania State University College of Medicine, Hershey 17033, USA
Exp Neurol 160:268-78. 1999b>Tottering (tg) mice inherit a recessive mutation of the calcium channel alpha 1A subunit gene, which encodes the pore-forming protein of P/Q-type voltage-sensitive calcium channels and is predominantly expressed in cerebellar granule and ..
- Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol))Y Mori
Department of Information Physiology, National Institute for Physiological Sciences, The Graduate University for Advanced Studies, Okazaki, Aichi, Japan
J Neurosci 20:5654-62. 2000....
- Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activityC F Fletcher
Mouse Cancer Genetics Program, National Cancer Institute FCRDC, Frederick, Maryland 21702, USA
FASEB J 15:1288-90. 2001
- Apoptotic cell death of cerebellar granule cells in rolling mouse NagoyaYoung Suk Suh
Department of Anatomy, College of Medicine and Human Genetics, Institute of Medicine Science Research Center, Korea University, 126 1 Anam dong 5 ga, Sungbuk Ku, Seoul 136 705, South Korea
Neurosci Lett 325:1-4. 2002Rolling mouse Nagoya is a voltage dependent calcium channel alpha1A subunit mutant showing moderate ataxia. Granule cell loss was previously reported in the cerebellar vermis of homozygous rolling...
- Bidirectional alterations in cerebellar synaptic transmission of tottering and rolling Ca2+ channel mutant miceKaori Matsushita
Department of Information Physiology, Center for Brain Experiment, National Institute for Physiological Sciences, Okazaki National Research Institutes, Okazaki 444 8585, Japan
J Neurosci 22:4388-98. 2002Hereditary ataxic mice, tottering (tg) and rolling Nagoya (tg(rol)), carry mutations in the P/Q-type Ca(2+) channel alpha(1A) subunit gene...
- A perforated patch-clamp study of calcium currents and exocytosis in chromaffin cells of wild-type and alpha(1A) knockout miceMarcos Aldea
Instituto Teofilo Hernando, Departamento de Farmacologia, Facultad de Medicina, Universidad Autonoma de Madrid, Spain
J Neurochem 81:911-21. 2002..This may be due to altered Ca(2+) homeostasis in these mice, as compared to wild mouse chromaffin cells...
- Enhanced G protein-dependent modulation of excitatory synaptic transmission in the cerebellum of the Ca2+ channel-mutant mouse, totteringYu Dong Zhou
Department of Neuroscience, Tufts University School of Medicine, New England Medical Centre, Boston, MA 02111, USA
J Physiol 547:497-507. 2003b>Tottering, a mouse model for absence epilepsy and cerebellar ataxia, carries a mutation in the gene encoding class A (P/Q-type) Ca2+ channels, the dominant exocytotic Ca2+ channel at most synapses in the mammalian central nervous system...
- Tottering--a neuromusclar mutation in the mouse. And its linkage with oligosyndacylismM C Green
J Hered 53:233-7. 1962
- Over-expression of corticotropin-releasing factor mRNA in inferior olivary neurons of rolling mouse NagoyaKazuhiko Sawada
Department of Anatomy and Developmental Neurobiology, University of Tokushima School of Medicine, Tokushima 770 8503, Japan
Brain Res Mol Brain Res 117:190-5. 2003..These results suggest a region-related over-expression of CRF mRNA in the ION of RMN. This may be responsible for the increased sensitivity of some Purkinje cells to glutamate, resulting in ataxic symptoms of RMN...
- Eye movements of the murine P/Q calcium channel mutant rocker, and the impact of agingJohn S Stahl
Department of Neurology, Case Western Reserve University, Cleveland, Ohio 44106, USA
J Neurophysiol 91:2066-78. 2004Mutations in the gene encoding the ion pore of the P/Q voltage-activated calcium channel (CACNA1A) are predicted to alter synaptic transmission and dendritic excitability within cerebellar granule and Purkinje cells...
- P/Q-type Ca2+ channel alpha1A regulates synaptic competition on developing cerebellar Purkinje cellsTaisuke Miyazaki
Department of Anatomy, Hokkaido University School of Medicine, Sapporo 060 8638, Japan
J Neurosci 24:1734-43. 2004..Here, we demonstrate that the P/Q-type Ca2+ channel alpha1A, a major Ca2+ channel subtype in Purkinje cells, is crucial for this organized synapse formation...
- A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depressionArn M J M van den Maagdenberg
Department of Biomedical Sciences, University of Padova, CNR Institute of Neuroscience, Viale G Colombo 3, 35121 Padova, Italy
Neuron 41:701-10. 2004..migraine type 1 (FHM-1) is a Mendelian subtype of migraine with aura that is caused by missense mutations in the CACNA1A gene that encodes the alpha(1) subunit of neuronal Ca(v)2.1 Ca(2+) channels...
- Immunocytochemical localization of the alpha 1A subunit of the P/Q-type calcium channel in the rat cerebellumAkos Kulik
Department of Anatomy and Cell Biology, University of Freiburg, 79104 Freiburg, Germany
Eur J Neurosci 19:2169-78. 2004..We used an antibody specific for the alpha1A subunit of the P/Q-type channel in quantitative pre-embedding immunogold labelling combined with three-..
- Increased noise level of purkinje cell activities minimizes impact of their modulation during sensorimotor controlF E Hoebeek
Department of Neuroscience, Erasmus MC, Dr Molenwaterplein 50, P O Box 1738, 3000 DR Rotterdam, The Netherlands
Neuron 45:953-65. 2005..Here, we show that regularity of neuronal spike activities affects sensorimotor processing in tottering mutants, which suffer from a mutation in P/Q-type voltage-gated calcium channels...
- Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weaknessS Kaja
Department of Neurology and Clinical Neurophysiology, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
Neuroscience 135:81-95. 2005..Mutations in the encoding gene, CACNA1A, are thus likely to affect neurotransmitter release...
- Taltirelin improves motor ataxia independently of monoamine levels in rolling mouse nagoya, a model of spinocerebellar atrophyTomoka Nakamura
Laboratory of CNS Pharmacology, Graduate School of Pharmaceutical Sciences, Nagoya City University, Japan
Biol Pharm Bull 28:2244-7. 2005....
- Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxiaJoy T Walter
Department of Neuroscience, Albert Einstein College of Medicine, 506 Kennedy Center, 1410 Pelham Parkway South, Bronx, New York 10461, USA
Nat Neurosci 9:389-97. 2006Episodic ataxia type-2 (EA2) is caused by mutations in P/Q-type voltage-gated calcium channels that are expressed at high densities in cerebellar Purkinje cells...
- Motor deficits in homozygous and heterozygous p/q-type calcium channel mutantsAkira Katoh
Department of Neurobiology, Stanford University, 299 W Campus Drive, Stanford, CA 94305 5125, USA
J Neurophysiol 97:1280-7. 2007..Several allelic variants of the alpha1A pore-forming subunit of P/Q-type VDCCs have been described, and mice homozygous for these mutations exhibit gait ..
- A CaV2.1 calcium channel mutation rocker reduces the number of postsynaptic AMPA receptors in parallel fiber-Purkinje cell synapsesTakashi Kodama
Department of Information Physiology, National Institute for Physiological Sciences, Okazaki 444 8787, Japan
Eur J Neurosci 24:2993-3007. 2006The rocker mice are hereditary ataxic mutants that carry a point mutation in the gene encoding the CaV2.1 (P/Q-type) Ca2+ channel alpha1 subunit, and show the mildest symptoms among the reported CaV2.1 mutant mice...
- Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling NagoyaSimon Kaja
Department of Neurology and Clinical Neurophysiology, Leiden University Medical Centre, Leiden, The Netherlands
Eur J Neurosci 25:2009-20. 2007The ataxic mouse rolling Nagoya (RN) carries a missense mutation in the Cacna1a gene, encoding the pore-forming subunit of neuronal Ca(v)2.1 (P/Q-type) Ca2+ channels...
- Differential alterations in expressions of ryanodine receptor subtypes in cerebellar cortical neurons of an ataxic mutant, rolling mouse NagoyaK Sawada
Department of Anatomy and Developmental Neurobiology, University of Tokushima Graduate School Institute of Health Biosciences, 3 18 15 Kuramoto cho, Tokushima 770 8503, Japan
Neuroscience 152:609-17. 2008..Such expressional changes in ryanodine receptor subtypes may be involved in Ca(2+) channel alpha(1A) subunit gene mutation, and may alter regulation of intracellular Ca(2+) concentrations in cerebellar cortical neurons...
- Impact of the leaner P/Q-type Ca2+ channel mutation on excitatory synaptic transmission in cerebellar Purkinje cellsShaolin Liu
Department of Neurosciences, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, OH 44106 4975, USA
J Physiol 586:4501-15. 2008..described changes in intrinsic properties and excitability of cerebellar Purkinje cells (PCs) resulting from the leaner mutation, which is known to reduce whole-cell Ca(2+) currents in PCs and cause severe ataxia...
- Enhanced circadian phase resetting in R192Q Cav2.1 calcium channel migraine miceFloor van Oosterhout
Laboratory for Neurophysiology, Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands
Ann Neurol 64:315-24. 2008..1 calcium channels, causing increased presynaptic calcium influx and neurotransmitter release. We investigated whether these mice have an abnormal adjustment to phase advance shifts...
- Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine miceAngelita Tottene
Department of Biomedical Sciences, University of Padova and CNR Institute of Neuroscience, Viale G Colombo 3, Padua, Italy
Neuron 61:762-73. 2009..The synapse-specific effect of FHM1 mutations points to disruption of excitation-inhibition balance and neuronal hyperactivity as the basis for episodic vulnerability to CSD ignition in migraine...
- Motor coordination impairment in aged heterozygous rolling Nagoya, Cav2.1 mutant miceEiki Takahashi
Research Resources Center, RIKEN Brain Science Institute, Wako, Saitama, Japan
Brain Res 1279:50-7. 2009..These findings suggest that heterozygous mice show age-related motor changes due to mutant-type Cav2.1 and that heterozygous mice may represent a new model for examining motor function...
- Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraineDaniela Pietrobon
Department of Biomedical Sciences, University of Padova, 35121 Padova, Italy
J Physiol 588:1871-8. 2010....
- CaV2.1 channelopathiesDaniela Pietrobon
Department of Biomedical Sciences, University of Padova, 35121, Padua, Italy
Pflugers Arch 460:375-93. 2010Mutations in the CACNA1A gene that encodes the pore-forming alpha1 subunit of human voltage-gated CaV2...
- Familial hemiplegic migraine Ca(v)2.1 channel mutation R192Q enhances ATP-gated P2X3 receptor activity of mouse sensory ganglion neurons mediating trigeminal painAsha Nair
Neurobiology Sector, International School for Advanced Studies SISSA, via Bonomea 265, 34136 Trieste, Italy
Mol Pain 6:48. 2010The R192Q mutation of the CACNA1A gene, encoding for the α1 subunit of voltage-gated P/Q Ca2+ channels (Ca(v)2.1), is associated with familial hemiplegic migraine-1...
- Trigeminal ganglion neuron subtype-specific alterations of Ca(V)2.1 calcium current and excitability in a Cacna1a mouse model of migraineB Fioretti
Department of Biomedical Sciences, University of Padova and CNR Institute of Neuroscience, 35121 Padova, Italy
J Physiol 589:5879-95. 2011..Our findings suggest that the facilitation of peripheral mechanisms of CGRP action, such as dural vasodilatation and nociceptor sensitization at the meninges, does not contribute to the generation of headache in FHM1...
- Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of HeldCarlota Gonzalez Inchauspe
Instituto de Fisiologia, Biología Molecular y Neurociencias, CONICET, Departamento de Fisiologia, Biologia Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
J Neurophysiol 108:2967-76. 2012..type 1 (FHM-1) is an autosomal-dominant subtype of migraine with aura, caused by missense mutations in the CACNA1A gene that encodes the α(1A) pore-forming subunit of Ca(V)2.1 channel...
- Development of Purkinje cell degeneration in a knockin mouse model reveals lysosomal involvement in the pathogenesis of SCA6Toshinori Unno
The Center for Brain Integration Research and Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Bunkyo, Tokyo 113 8519, Japan
Proc Natl Acad Sci U S A 109:17693-8. 2012Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease caused by the expansion of a polyglutamine tract in the Ca(v)2.1 voltage-gated calcium channel...
- Silencing the majority of cerebellar granule cells uncovers their essential role in motor learning and consolidationElisa Galliano
Department of Neuroscience, Erasmus MC Rotterdam, 3015GE Rotterdam, The Netherlands
Cell Rep 3:1239-51. 2013....
- Tottering and leaner mutations perturb transient developmental expression of tyrosine hydroxylase in embryologically distinct Purkinje cellsE J Hess
Department of Neuropharmacology, Research Institute of Scripps Clinic, La Jolla, California 92037
Neuron 6:123-32. 1991The mouse mutants tottering and leaner exhibit neurologic disorders associated, in part, with global noradrenergic hyperinnervation...
- Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leanerN M Lorenzon
Department of Anatomy and Neurobiology, Colorado State University, Fort Collins, Colorado 80523, USA
J Neurosci 18:4482-9. 1998..episodic ataxia-2, and spinocerebellar ataxia 6 and also to cause the murine neurological phenotypes of tottering and leaner...
- Abnormal expression of tyrosine hydroxylase immunoreactivity in cerebellar cortex of ataxic mutant miceK Sawada
Department of Anatomy, School of Medicine, Tokushima University, Tokushima 770 8503, Japan
Brain Res 829:107-12. 1999..Since TH promoter is activated by Ca2+, TH expression in the mutant Purkinje cells may predict neuronal dysfunction caused by alterations in cellular Ca2+ currents...
- Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunitK Jun
National Creative Research Initiatives Center for Calcium and Learning, Pohang University of Science and Technology, Pohang, Korea
Proc Natl Acad Sci U S A 96:15245-50. 1999..The alpha(1A)(-/-) mice provide a starting point for unraveling neuropathological mechanisms of human diseases generated by mutations in alpha(1A)...
- Potassium channel blockers inhibit the triggers of attacks in the calcium channel mouse mutant totteringCatherine J C Weisz
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
J Neurosci 25:4141-5. 2005Humans with the disorder episodic ataxia type 2 (EA2) and the tottering mouse mutant exhibit episodic attacks induced by emotional and chemical stress...
- Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channelsKei Watase
Twenty First Century Center of Excellence Program on Brain Integration and Its Disorders, Tokyo Medical and Dental University, 1 5 45 Yushima, Bunkyo ku, Tokyo 113 8519, Japan
Proc Natl Acad Sci U S A 105:11987-92. 2008..generated three strains of knockin (KI) mice carrying normal, expanded, or hyperexpanded CAG repeat tracts in the Cacna1a locus...
- High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L miceArn M J M van den Maagdenberg
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
Ann Neurol 67:85-98. 2010The CACNA1A gene encodes the pore-forming subunit of neuronal Ca(V)2.1 Ca2+ channels...
- Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutationsMelanie D Mark
Department of Zoology and Neurobiology, ND7 31, Ruhr University Bochum, D 44780 Bochum, Germany
J Neurosci 31:4311-26. 2011..and dissect their role in neuronal networks at distinct developmental stages, we created a novel conditional Cacna1a knock-in mouse by inserting the floxed green fluorescent protein derivative Citrine into the first exon of ..
- TNFα levels and macrophages expression reflect an inflammatory potential of trigeminal ganglia in a mouse model of familial hemiplegic migraineAlessia Franceschini
Neuroscience Department, International School for Advanced Studies, Trieste, Italy
PLoS ONE 8:e52394. 2013..to a local inflammatory phenotype of a transgenic knock-in (KI) mouse model of familial hemiplegic migraine type-1 (FHM-1)...
- An increased expression of Ca(2+) channel alpha(1A) subunit immunoreactivity in deep cerebellar neurons of rolling mouse NagoyaK Sawada
Department of Anatomy, University of Tokushima School of Medicine, Tokushima 770 8503, Japan
Neurosci Lett 316:87-90. 2001..Increased expression of the alpha(1A) subunit in deep cerebellar neurons might compensate for the altered function of the P/Q-type Ca(2+) channel of RMN...
- Mutant mouse strains as models for in vivo radiotracer evaluations: [11C]methoxytetrabenazine ([11C]MTBZ) in tottering miceM R Kilbourn
Department of Internal Medicine, University of Michigan School of Medicine, Ann Arbor 48109, USA
Nucl Med Biol 22:565-7. 1995..a high affinity radioligand for the vesicular monoamine transporter, has been examined in normal and tottering mice, which are neurological mutants...
- A gene for familial hemiplegic migraine maps to chromosome 19A Joutel
Laboratoire de Pathologie de l Immunité, Faculte de Medecine Necker, Paris, France
Nat Genet 5:40-5. 1993..Multilocus linkage analysis suggested that the loci responsible for the two diseases reside within an interval of about 30 cM on chromosome 19...
- Animal models of inherited epilepsyJ R Buchhalter
Department of Neurology, Oregon Health Sciences University, Portland
Epilepsia 34:S31-41. 1993..The underlying neuroanatomy involves hippocampal-cortical interactions indicative of a partial epilepsy. The tottering mouse has absence and myoclonic seizures, a 6- to 7-Hz ictal spike-wave EEG, and noradrenergic hyperinnervation ..
- Distribution of thyrotropin-releasing hormone (TRH) receptors in the brain of the ataxic mutant mouse, rolling mouse NagoyaK Kinoshita
Pharmaceutical Development Research Laboratory, Tanabe Seiyaku Co, Ltd, Toda shi, Saitama, Japan
Biol Pharm Bull 20:86-7. 1997..These results suggest that TRH and TA-0910 directly activate the VTF by acting on TRH receptors in the VTF and indirectly activate it through the receptors in the CnF...
- Effect of biotin depletion on spike-wave seizures in the tottering mutant mouseK H Krause
Neurological Clinic, University of Heidelberg, Germany
Int J Vitam Nutr Res 67:461-3. 1997Influence of depletion of biotin on spontaneously occurring spike-wave seizures in the tottering mutant mouse was tested by electrocorticographic recordings over three hours in five mice fed a biotin deficient diet...
- Impaired neurotransmitter release and elevated threshold for cortical spreading depression in mice with mutations in the alpha1A subunit of P/Q type calcium channelsC Ayata
Department of Neurosurgery and Neurology, Massachusetts General Hospital, Harvard Medical School, Charlestown 02129, USA
Neuroscience 95:639-45. 2000..in the CacnalA gene encoding the alpha1A subunit of the P/Q type Ca2+ channel have recently been reported in tottering mice and a more severely affected allele, leaner...
- Topological relationship between corticotropin-releasing factor-immunoreactive cerebellar afferents and tyrosine hydroxylase-immunoreactive Purkinje cells in a hereditary ataxic mutant, rolling mouse NagoyaK Sawada
Department of Anatomy, University of Tokushima School of Medicine, Tokushima, Japan
Neuroscience 102:925-35. 2001..Therefore, we suggest that an increased level of corticotropin-releasing factor in a specific population of climbing fibers may alter the function of their target Purkinje cells...
- Altered properties of quantal neurotransmitter release at endplates of mice lacking P/Q-type Ca2+ channelsFrancisco J Urbano
Department of Molecular and Cellular Physiology, Stanford University School of Medicine, Stanford, CA 94305, USA
Proc Natl Acad Sci U S A 100:3491-6. 2003..Changes in presynaptic function were also associated with a significant reduction in the size of postsynaptic acetylcholine receptor clusters...
- Genetic background influences P/Q-type Ca2+ channel alpha1A subunit mRNA expression in olfactory bulb and reproductive ability of N-type Ca2+ channel alpha1B subunit-deficient miceEiki Takahashil
Tsukuba Research Laboratory, Eisai Co Ltd, 5 1 3 Tokodai, Tsukuba, Ibaraki 300 2635, Japan
Biochem Genet 43:287-98. 2005..In a previous study, we observed a compensatory increase of mRNA expression of the P/Q-type Ca2+ channel alpha1A subunit gene in olfactory bulb of alpha1B-deficient mice with a CBA x C57BL/6 background; these mice showed a ..
- Altered functional expression of Purkinje cell calcium channels precedes motor dysfunction in tottering miceM A Erickson
Department of Neuroscience, Tufts University School of Medicine, Boston, MA 02111, USA
Neuroscience 150:547-55. 2007In tottering mice, a point mutation in the gene encoding P-type (Ca(v)2.1) voltage-gated calcium channels results in ataxia, absence epilepsy, and motor dystonia that appear 3-4 weeks postnatally...
- A relative weak leg muscle in the rolling Nagoya mouse as a model for Lambert-Eaton myasthenic syndromeP C Molenaar
Neurophysiology, Department of Molecular Cell Biology, Leiden University Medical Centre, Leiden, The Netherlands
J Neuroimmunol 201:166-71. 2008..The results suggest that leg weakness in LEMS may result from a relatively small safety factor of neuromuscular transmission and that this could become particularly prominent when the activity of calcium channels is diminished...
- Emotional behavior in heterozygous rolling mouse Nagoya Ca v 2.1 channel mutant miceEiki Takahashi
Research Resources Center, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako, Saitama, 351 0198, Japan
Neurobiol Aging 32:486-96. 2011..1α(1), and that heterozygous mice may represent a novel model to delineate the interaction between Ca(v)2.1 function and synaptic transmission...
- Age-related spatial and nonspatial short-term memory in Cav2.1alpha1 mutant mice, Rolling NagoyaEiki Takahashi
RIKEN Brain Science Institute, Research Resources Center, Hirosawa 2 1, Wako, Saitama 351 0198, Japan
Behav Brain Res 204:241-5. 2009..In perirhinal cortex, there were no significantly different expressions. Alteration of age-dependent expressions of Cav2.1 channels differs in different regions with related effects on behavioral performances...
- Enhanced tonic GABAA inhibition in typical absence epilepsyDavid W Cope
School of Biosciences, Cardiff University, Cardiff, UK
Nat Med 15:1392-8. 2009..These results identify an apparently common cellular pathology in typical absence seizures that may have epileptogenic importance and highlight potential therapeutic targets for the treatment of absence epilepsy...
- Subthreshold membrane potential oscillations in inferior olive neurons are dynamically regulated by P/Q- and T-type calcium channels: a study in mutant miceSoonwook Choi
New York University School of Medicine, Department of Physiology and Neuroscience, 550 First Ave, MSB 442, New York, NY 10016, USA
J Physiol 588:3031-43. 2010..Mice lacking either the CaV2.1 gene of the pore-forming alpha1A subunit for P/Q-type calcium channel, or the CaV3...
- Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse totteringJ L Noebels
Science 204:1334-6. 1979Mice with the mutant gene tottering (tg, chromosome 8, autosomal recessive) show, in adolescence, abnormal bursts of bilaterally synchronous spike waves as revealed in electrocorticograms recorded over long periods...
- Glutathione levels in specific brain regions of genetically epileptic (tg/tg) miceL C Abbott
Department of Veterinary Biosciences, College of Veterinary Medicine, University of Illinois, Urbana Champaign 61801
Brain Res Bull 25:629-31. 1990The tottering (tg/tg) mouse is a genetic model of human generalized epilepsy; these mice exhibit spontaneous absence seizures accompanied by bilaterally synchronous spike-wave discharges (6)...
- [Elevated immunoreactive-somatostatin levels in the brain of ataxic mutant mice]K Matsui
National Institute of Neuroscience, N C N P, Tokyo, Japan
Jikken Dobutsu 37:263-8. 1988..The present results suggest that elevated levels of IR-SRIF in the brain may play a role in the mechanism underlying the manifestation of ataxia in ataxic mutant mice, especially in Rolling Mouse Nagoya and PCD...
- Evidence for allelism of leaner and tottering in the mouseS Tsuji
Genet Res 17:83-8. 1971
- Tumor suppressor gene expression during normal and pathologic myocardial growthK K Kim
Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis 46202 4800
J Biol Chem 269:22607-13. 1994..The potential role of tumor suppressor gene product expression in myocardial development and pathology is discussed...
- New PET Radiotracers-Monoamine TransportersMichael Kilbourn; Fiscal Year: 2003....
- Vestibulocerebellar function in channelopathy mutantsJohn Stahl; Fiscal Year: 2004..Thus, the insights into normal cerebellar function generated by this study should also advance our understanding of mechanisms of heritable neurological disease. ..
- Molecular Biology of Calcuim Channel Gamma SubunitsDaniel Burgess; Fiscal Year: 2006....
- TRAINING IN MOLECULAR NEUROBIOLOGYWilliam Catterall; Fiscal Year: 2008..The training program will integrate the substantial expertise of this group of faculty in a coordinated pre-doctoral and post-doctoral training effort. ..
- Modulation of ataxin-1 phosphorylationHarry Orr; Fiscal Year: 2006..Lead compounds that have been validated will be used to begin preclinical testing using a mouse model of SCA1. ..