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Summary Expression Phenotypes Gene Literature (50) GO Terms (0) Nucleotides (163) Proteins (77) Interactants (241) Wiki
XB-GENEPAGE-1013830

Papers associated with cacna1a

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A convergent molecular network underlying autism and congenital heart disease., Rosenthal SB, Willsey HR, Xu Y, Xu Y, Mei Y, Dea J, Wang S, Curtis C, Sempou E, Khokha MK, Chi NC, Willsey AJ, Fisch KM, Ideker T., Cell Syst. November 17, 2021; 12 (11): 1094-1107.e6.            


Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis., Pizzo L, Lasser M, Yusuff T, Jensen M, Ingraham P, Huber E, Singh MD, Monahan C, Iyer J, Desai I, Karthikeyan S, Gould DJ, Yennawar S, Weiner AT, Pounraja VK, Krishnan A, Rolls MM, Lowery LA, Girirajan S., PLoS Genet. January 1, 2021; 17 (4): e1009112.                    


Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia., Stendel C, D'Adamo MC, Wiessner M, Dusl M, Cenciarini M, Belia S, Nematian-Ardestani E, Bauer P, Senderek J, Klopstock T, Pessia M., Int J Mol Sci. May 27, 2020; 21 (11):             


Cav2.1 C-terminal fragments produced in Xenopus laevis oocytes do not modify the channel expression and functional properties., Ménard C, Charnet P, Rousset M, Vignes M, Cens T., Eur J Neurosci. January 1, 2020; 51 (9): 1900-1913.            


Calcium Signaling in Vertebrate Development and Its Role in Disease., Paudel S, Sindelar R, Saha M., Int J Mol Sci. October 30, 2018; 19 (11):     


Congruent pattern of accessibility identifies minimal pore gate in a non-symmetric voltage-gated sodium channel., Oelstrom K, Chanda B., Nat Commun. January 1, 2016; 7 11608.


Molecular characterization and functional expression of the Apis mellifera voltage-dependent Ca2+ channels., Cens T, Rousset M, Collet C, Charreton M, Garnery L, Le Conte Y, Chahine M, Sandoz JC, Charnet P., Insect Biochem Mol Biol. March 1, 2015; 58 12-27.


A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx., Bahamonde MI, Serra SA, Drechsel O, Rahman R, Marcé-Grau A, Prieto M, Ossowski S, Macaya A, Fernández-Fernández JM., PLoS One. January 1, 2015; 10 (12): e0146035.                


The role of voltage-gated calcium channels in neurotransmitter phenotype specification: Coexpression and functional analysis in Xenopus laevis., Lewis BB, Miller LE, Herbst WA, Saha MS., J Comp Neurol. August 1, 2014; 522 (11): 2518-31.                          


Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A., García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E., J Neurol Sci. July 15, 2014; 342 (1-2): 69-78.


The inhibition of functional expression of calcium channels by prion protein demonstrates competition with α2δ for GPI-anchoring pathways., Alvarez-Laviada A, Kadurin I, Senatore A, Chiesa R, Dolphin AC., Biochem J. March 1, 2014; 458 (2): 365-74.          


Tuning voltage-gated channel activity and cellular excitability with a sphingomyelinase., Combs DJ, Shin HG, Xu Y, Xu Y, Ramu Y, Lu Z., J Gen Physiol. October 1, 2013; 142 (4): 367-80.                    


Molecular determinants of Gem protein inhibition of P/Q-type Ca2+ channels., Fan M, Zhang WK, Buraei Z, Yang J., J Biol Chem. June 29, 2012; 287 (27): 22749-58.


Episodic ataxias 1 and 2., Baloh RW., Handb Clin Neurol. January 1, 2012; 103 595-602.


Effects of isoflurane on the expressed Cav2.2 currents in Xenopus oocytes depend on the activation of protein kinase Cδ and its phosphorylation sites in the Cav2.2α1 subunits., Rajagopal S, Fang H, Lynch C, Sando JJ, Kamatchi GL., Neuroscience. May 19, 2011; 182 232-40.


Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)., Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM., PLoS One. March 2, 2011; 6 (3): e17811.      


Stargazin modulates neuronal voltage-dependent Ca(2+) channel Ca(v)2.2 by a Gbetagamma-dependent mechanism., Tselnicker I, Tsemakhovich VA, Dessauer CW, Dascal N., J Biol Chem. July 2, 2010; 285 (27): 20462-71.


CaV2.1 (P/Q channel) interaction with synaptic proteins is essential for depolarization-evoked release., Cohen-Kutner M, Nachmanni D, Atlas D., Channels (Austin). July 1, 2010; 4 (4): 266-77.


N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2., Page KM, Heblich F, Margas W, Pratt WS, Nieto-Rostro M, Chaggar K, Sandhu K, Davies A, Dolphin AC., J Biol Chem. January 8, 2010; 285 (2): 835-44.              


Cloning and characterization of voltage-gated calcium channel alpha1 subunits in Xenopus laevis during development., Lewis BB, Wester MR, Miller LE, Nagarkar MD, Johnson MB, Saha MS., Dev Dyn. November 1, 2009; 238 (11): 2891-902.                                


RGK GTPase-dependent CaV2.1 Ca2+ channel inhibition is independent of CaVbeta-subunit-induced current potentiation., Leyris JP, Gondeau C, Charnet A, Delattre C, Rousset M, Cens T, Charnet P., FASEB J. August 1, 2009; 23 (8): 2627-38.


Use-dependent block of voltage-gated Cav2.1 Ca2+ channels by petasins and eudesmol isomers., Horak S, Koschak A, Stuppner H, Striessnig J., J Pharmacol Exp Ther. July 1, 2009; 330 (1): 220-6.


Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine., Tavraz NN, Dürr KL, Koenderink JB, Freilinger T, Bamberg E, Dichgans M, Friedrich T., Channels (Austin). March 1, 2009; 3 (2): 82-7.


Disruption of the IS6-AID linker affects voltage-gated calcium channel inactivation and facilitation., Findeisen F, Minor DL., J Gen Physiol. March 1, 2009; 133 (3): 327-43.              


Introduction into Ca(v)2.1 of the homologous mutation of Ca(v)1.2 causing the Timothy syndrome questions the role of V421 in the phenotypic definition of P-type Ca(2+) channel., Cens T, Leyris JP, Charnet P., Pflugers Arch. November 1, 2008; 457 (2): 417-30.


Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2., Graves TD, Imbrici P, Kors EE, Terwindt GM, Eunson LH, Frants RR, Haan J, Ferrari MD, Goadsby PJ, Hanna MG, van den Maagdenberg AM, Kullmann DM., Neurobiol Dis. October 1, 2008; 32 (1): 10-5.


Alternative splicing of the Ca2+ channel beta4 subunit confers specificity for gabapentin inhibition of Cav2.1 trafficking., Mich PM, Horne WA., Mol Pharmacol. September 1, 2008; 74 (3): 904-12.


Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels., Jeng CJ, Sun MC, Chen YW, Tang CY., J Cell Physiol. February 1, 2008; 214 (2): 422-33.


The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit., Gazulla J, Tintoré MA., Med Hypotheses. January 1, 2007; 68 (1): 131-6.


Omega-conotoxin CVIB differentially inhibits native and recombinant N- and P/Q-type calcium channels., Motin L, Yasuda T, Schroeder CI, Lewis RJ, Adams DJ., Eur J Neurosci. January 1, 2007; 25 (2): 435-44.


Activation of protein kinase C augments T-type Ca2+ channel activity without changing channel surface density., Park JY, Kang HW, Moon HJ, Huh SU, Jeong SW, Soldatov NM, Lee JH., J Physiol. December 1, 2006; 577 (Pt 2): 513-23.


BKCa-Cav channel complexes mediate rapid and localized Ca2+-activated K+ signaling., Berkefeld H, Sailer CA, Bildl W, Rohde V, Thumfart JO, Eble S, Klugbauer N, Reisinger E, Bischofberger J, Oliver D, Knaus HG, Schulte U, Fakler B., Science. October 27, 2006; 314 (5799): 615-20.


Rare missense variants in ATP1A2 in families with clustering of common forms of migraine., Todt U, Dichgans M, Jurkat-Rott K, Heinze A, Zifarelli G, Koenderink JB, Goebel I, Zumbroich V, Stiller A, Ramirez A, Friedrich T, Göbel H, Kubisch C., Hum Mutat. October 1, 2005; 26 (4): 315-21.


Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A., Imbrici P, Eunson LH, Graves TD, Bhatia KP, Wadia NH, Kullmann DM, Hanna MG., Neurology. September 27, 2005; 65 (6): 944-6.


Localization of the activation gate of a voltage-gated Ca2+ channel., Xie C, Zhen XG, Yang J., J Gen Physiol. September 1, 2005; 126 (3): 205-12.              


Functional architecture of the inner pore of a voltage-gated Ca2+ channel., Zhen XG, Xie C, Fitzmaurice A, Schoonover CE, Orenstein ET, Yang J., J Gen Physiol. September 1, 2005; 126 (3): 193-204.                    


Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects., Müllner C, Broos LA, van den Maagdenberg AM, Striessnig J., J Biol Chem. December 10, 2004; 279 (50): 51844-50.


A Purkinje cell specific GoLoco domain protein, L7/Pcp-2, modulates receptor-mediated inhibition of Cav2.1 Ca2+ channels in a dose-dependent manner., Kinoshita-Kawada M, Oberdick J, Xi Zhu M., Brain Res Mol Brain Res. December 6, 2004; 132 (1): 73-86.


Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia., Imbrici P, Jaffe SL, Eunson LH, Davies NP, Herd C, Robertson R, Kullmann DM, Hanna MG., Brain. December 1, 2004; 127 (Pt 12): 2682-92.


Ca2+ and phosphatidylinositol 4,5-bisphosphate stabilize a Gbeta gamma-sensitive state of Ca V2 Ca 2+ channels., Rousset M, Cens T, Gouin-Charnet A, Scamps F, Charnet P., J Biol Chem. April 9, 2004; 279 (15): 14619-30.


R-type voltage-gated Ca(2+) channel interacts with synaptic proteins and recruits synaptotagmin to the plasma membrane of Xenopus oocytes., Cohen R, Atlas D., Neuroscience. January 1, 2004; 128 (4): 831-41.


Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL, Bianchi MT, Bianch MT, Feng H., Exp Neurol. November 1, 2003; 184 Suppl 1 S58-67.


Human neuronal stargazin-like proteins, gamma2, gamma3 and gamma4; an investigation of their specific localization in human brain and their influence on CaV2.1 voltage-dependent calcium channels expressed in Xenopus oocytes., Moss FJ, Dolphin AC, Clare JJ., BMC Neurosci. June 9, 2003; 4 23.              


Alternative splicing of a beta4 subunit proline-rich motif regulates voltage-dependent gating and toxin block of Cav2.1 Ca2+ channels., Helton TD, Kojetin DJ, Cavanagh J, Horne WA., J Neurosci. November 1, 2002; 22 (21): 9331-9.


Modelling of the III-IV loop, a domain involved in calcium channel Ca(v)2.1 inactivation, highlights a structural homology with the gamma subunit of G proteins., Fathallah M, Sandoz G, Mabrouk K, Geib S, Urbani J, Villaz M, Ronjat M, Sabatier JM, De Waard M., Eur J Neurosci. July 1, 2002; 16 (2): 219-28.


The interaction between the I-II loop and the III-IV loop of Cav2.1 contributes to voltage-dependent inactivation in a beta -dependent manner., Geib S, Sandoz G, Cornet V, Mabrouk K, Fund-Saunier O, Bichet D, Villaz M, Hoshi T, Sabatier JM, De Waard M., J Biol Chem. March 22, 2002; 277 (12): 10003-13.


Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia., Wappl E, Koschak A, Poteser M, Sinnegger MJ, Walter D, Eberhart A, Groschner K, Glossmann H, Kraus RL, Grabner M, Striessnig J., J Biol Chem. March 1, 2002; 277 (9): 6960-6.


Binding of G alpha(o) N terminus is responsible for the voltage-resistant inhibition of alpha(1A) (P/Q-type, Ca(v)2.1) Ca(2+) channels., Kinoshita M, Nukada T, Asano T, Mori Y, Akaike A, Satoh M, Kaneko S., J Biol Chem. August 3, 2001; 276 (31): 28731-8.


Amino acids in segment IVS6 and beta-subunit interaction support distinct conformational changes during Ca(v)2.1 inactivation., Berjukow S, Marksteiner R, Sokolov S, Weiss RG, Margreiter E, Hering S., J Biol Chem. May 18, 2001; 276 (20): 17076-82.


The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes., Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM., J Neurosci. September 1, 2000; 20 (17): 6394-403.

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