{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T12:33:12Z","timestamp":1791981192992,"version":"4.4.0"},"reference-count":256,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T00:00:00Z","timestamp":1577404800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union's Horizon 2020 Framework Program for Research and Innovation","award":["785907 (Human Brain Project SGA2)"],"award-info":[{"award-number":["785907 (Human Brain Project SGA2)"]}]},{"name":"Italian Ministry of Education, University and Research (MIUR)","award":["Dipartimenti di Eccellenza Program (2018\u20132022) - Dept. of Biology and Biotechnology \"L. Spallanzani\", University of Pavia"],"award-info":[{"award-number":["Dipartimenti di Eccellenza Program (2018\u20132022) - Dept. of Biology and Biotechnology \"L. Spallanzani\", University of Pavia"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of more than 40 autosomal-dominant genetic and neurodegenerative diseases characterized by loss of balance and motor coordination due to dysfunction of the cerebellum and its efferent connections. Despite a well-described clinical and pathological phenotype, the molecular and cellular events that underlie neurodegeneration are still poorly undaerstood. Emerging research suggests that mutations in SCA genes cause disruptions in multiple cellular pathways but the characteristic SCA pathogenesis does not begin until calcium signaling pathways are disrupted in cerebellar Purkinje cells. Ca2+ signaling in Purkinje cells is important for normal cellular function as these neurons express a variety of Ca2+ channels, Ca2+-dependent kinases and phosphatases, and Ca2+-binding proteins to tightly maintain Ca2+ homeostasis and regulate physiological Ca2+-dependent processes. Abnormal Ca2+ levels can activate toxic cascades leading to characteristic death of Purkinje cells, cerebellar atrophy, and ataxia that occur in many SCAs. The output of the cerebellar cortex is conveyed to the deep cerebellar nuclei (DCN) by Purkinje cells via inhibitory signals; thus, Purkinje cell dysfunction or degeneration would partially or completely impair the cerebellar output in SCAs. In the absence of the inhibitory signal emanating from Purkinje cells, DCN will become more excitable, thereby affecting the motor areas receiving DCN input and resulting in uncoordinated movements. An outstanding advantage in studying the pathogenesis of SCAs is represented by the availability of a large number of animal models which mimic the phenotype observed in humans. By mainly focusing on mouse models displaying mutations or deletions in genes which encode for Ca2+ signaling-related proteins, in this review we will discuss the several pathogenic mechanisms related to deranged Ca2+ homeostasis that leads to significant Purkinje cell degeneration and dysfunction.<\/jats:p>","DOI":"10.3390\/ijms21010216","type":"journal-article","created":{"date-parts":[[2019,12,27]],"date-time":"2019-12-27T11:42:47Z","timestamp":1577446967000},"page":"216","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA)"],"prefix":"10.3390","volume":"21","author":[{"given":"Francesca","family":"Prestori","sequence":"first","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0010-0098","authenticated-orcid":false,"given":"Francesco","family":"Moccia","sequence":"additional","affiliation":[{"name":"Department of Biology and Biotechnology \u201cLazzaro Spallanzani\u201d, University of Pavia, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egidio","family":"D\u2019Angelo","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy"},{"name":"IRCCS Mondino Foundation, 27100 Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,12,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.brainresrev.2010.10.002","article-title":"The cerebellar network: From structure to function and dynamics","volume":"66","author":"Mazzarello","year":"2011","journal-title":"Brain Res. Rev."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s12311-015-0711-7","article-title":"Distributed Circuit Plasticity: New Clues for the Cerebellar Mechanisms of Learning","volume":"15","author":"Mapelli","year":"2016","journal-title":"Cerebellum"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1126\/science.aaw2571","article-title":"The cerebellum gets social","volume":"363","year":"2019","journal-title":"Science"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1093\/brain\/121.4.561","article-title":"The cerebellar cognitive affective syndrome","volume":"121","author":"Schmahmann","year":"1998","journal-title":"Brain"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1146\/annurev.neuro.31.060407.125606","article-title":"Cerebellum and nonmotor function","volume":"32","author":"Strick","year":"2009","journal-title":"Annu. Rev. Neurosci."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/2053-8871-1-4","article-title":"From mice to men: Lessons from mutant ataxic mice","volume":"1","author":"Cendelin","year":"2014","journal-title":"Cerebellum Ataxias"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1080\/14734220510007914","article-title":"The wide spectrum of spinocerebellar ataxias (SCAs)","volume":"4","author":"Manto","year":"2005","journal-title":"Cerebellum"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1038\/gim.2013.28","article-title":"Hereditary ataxias: Overview","volume":"15","author":"Jayadev","year":"2013","journal-title":"Genet. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1007\/s00415-018-9076-4","article-title":"Spinocerebellar ataxia: An update","volume":"266","author":"Sullivan","year":"2019","journal-title":"J. Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1097\/WNO0b013e3181b416de","article-title":"The spinocerebellar ataxias","volume":"29","author":"Paulson","year":"2009","journal-title":"J. Neuroophthalmol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/s12311-009-0144-2","article-title":"Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias","volume":"9","author":"Sanchez","year":"2010","journal-title":"Cerebellum"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"151","DOI":"10.2174\/1570159X15666170529104000","article-title":"Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development","volume":"16","author":"Shimobayashi","year":"2018","journal-title":"Curr. Neuropharmacol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1007\/s12311-008-0026-z","article-title":"Spinocerebellar ataxias caused by polyglutamine expansions: A review of therapeutic strategies","volume":"7","author":"Underwood","year":"2008","journal-title":"Cerebellum"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"221","DOI":"10.2174\/156652408784221298","article-title":"Molecular genetics and biomarkers of polyglutamine diseases","volume":"8","author":"Katsuno","year":"2008","journal-title":"Curr. Mol. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1016\/j.parkreldis.2009.06.001","article-title":"Spinocerebellar ataxia 8: Variable phenotype and unique pathogenesis","volume":"15","author":"Gupta","year":"2009","journal-title":"Parkinsonism Relat. Disord."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1007\/s12311-008-0010-7","article-title":"Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes","volume":"7","author":"Ikeda","year":"2008","journal-title":"Cerebellum"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/ana.20628","article-title":"New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14","volume":"58","author":"Klebe","year":"2005","journal-title":"Ann. Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1007\/s10038-006-0385-6","article-title":"A \u221216C>T substitution in the 5\u2032 UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano","volume":"51","author":"Ohata","year":"2006","journal-title":"J. Hum. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/B978-0-444-51892-7.00036-X","article-title":"Spinocerebellar ataxia type 14","volume":"103","author":"Chen","year":"2012","journal-title":"Handb. Clin. Neurol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"9148","DOI":"10.1523\/JNEUROSCI.0660-09.2009","article-title":"Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2","volume":"29","author":"Liu","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.tins.2010.02.005","article-title":"Human ataxias: A genetic dissection of inositol triphosphate receptor (ITPR1)-dependent signaling","volume":"33","author":"Schorge","year":"2010","journal-title":"Trends Neurosci."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1007\/s12311-010-0182-9","article-title":"Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias","volume":"11","author":"Kasumu","year":"2012","journal-title":"Cerebellum"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/S0301-0082(00)00024-1","article-title":"Mutant mice as a model for cerebellar ataxia","volume":"63","author":"Baurle","year":"2001","journal-title":"Prog. Neurobiol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1172\/JCI200420216","article-title":"Enhanced neuronal excitability in the absence of neurodegeneration induces cerebellar ataxia","volume":"113","author":"Shakkottai","year":"2004","journal-title":"J. Clin. Investig."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s12311-009-0127-3","article-title":"Animal models of human cerebellar ataxias: A cornerstone for the therapies of the twenty-first century","volume":"8","author":"Manto","year":"2009","journal-title":"Cerebellum"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.brainresbull.2011.07.016","article-title":"Genetically engineered mouse models of the trinucleotide-repeat spinocerebellar ataxias","volume":"88","author":"Ingram","year":"2012","journal-title":"Brain Res. Bull."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/S0092-8674(00)81373-2","article-title":"Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4","volume":"87","author":"Ophoff","year":"1996","journal-title":"Cell"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1038\/ng0197-62","article-title":"Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel","volume":"15","author":"Zhuchenko","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S0072-9752(10)97005-X","article-title":"Biological science of headache channels","volume":"97","author":"Pietrobon","year":"2010","journal-title":"Handb. Clin. Neurol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1146\/annurev.cb.06.110190.003435","article-title":"Calcium channels, stores, and oscillations","volume":"6","author":"Tsien","year":"1990","journal-title":"Annu. Rev. Cell Biol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/0165-6147(91)90595-J","article-title":"Molecular diversity of voltage-dependent Ca2+ channels","volume":"12","author":"Tsien","year":"1991","journal-title":"Trends Pharmacol. Sci."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1749-6632.1989.tb24084.x","article-title":"Voltage-dependent calcium conductances in mammalian neurons. The P channel","volume":"560","author":"Llinas","year":"1989","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1016\/0896-6273(92)90076-P","article-title":"P-type calcium channels in the somata and dendrites of adult cerebellar Purkinje cells","volume":"9","author":"Usowicz","year":"1992","journal-title":"Neuron"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/0896-6273(92)90223-Z","article-title":"P-type calcium channels in rat central and peripheral neurons","volume":"9","author":"Mintz","year":"1992","journal-title":"Neuron"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"6403","DOI":"10.1523\/JNEUROSCI.15-10-06403.1995","article-title":"Immunochemical identification and subcellular distribution of the alpha 1A subunits of brain calcium channels","volume":"15","author":"Westenbroek","year":"1995","journal-title":"J. Neurosci."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0006-8993(98)00048-1","article-title":"Differential roles of two types of voltage-gated Ca2+ channels in the dendrites of rat cerebellar Purkinje neurons","volume":"791","author":"Watanabe","year":"1998","journal-title":"Brain Res."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1523\/JNEUROSCI.4208-03.2004","article-title":"P\/Q-Type Ca2+ Channel \u03b11A Regulates Synaptic Competition on Developing Cerebellar Purkinje Cells","volume":"24","author":"Miyazaki","year":"2004","journal-title":"J. Neurosci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1126\/science.572084","article-title":"Inherited epilepsy: Spike-wave and focal motor seizures in the mutant mouse tottering","volume":"204","author":"Noebels","year":"1979","journal-title":"Science"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1016\/0306-4522(82)90129-4","article-title":"Cerebellar cell degeneration in the leaner mutant mouse","volume":"7","author":"Herrup","year":"1982","journal-title":"Neuroscience"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1006\/exnr.1999.7171","article-title":"Tottering mouse motor dysfunction is abolished on the Purkinje cell degeneration (pcd) mutant background","volume":"160","author":"Campbell","year":"1999","journal-title":"Exp. Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/j.neuron.2005.02.012","article-title":"Increased noise level of purkinje cell activities minimizes impact of their modulation during sensorimotor control","volume":"45","author":"Hoebeek","year":"2005","journal-title":"Neuron"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1152\/jn.00318.2005","article-title":"Eye movements of the murine P\/Q calcium channel mutant tottering, and the impact of aging","volume":"95","author":"Stahl","year":"2006","journal-title":"J. Neurophysiol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"34857","DOI":"10.1074\/jbc.273.52.34857","article-title":"Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel","volume":"273","author":"Wakamori","year":"1998","journal-title":"J. Biol. Chem."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"4388","DOI":"10.1523\/JNEUROSCI.22-11-04388.2002","article-title":"Bidirectional alterations in cerebellar synaptic transmission of tottering and rolling Ca2+ channel mutant mice","volume":"22","author":"Matsushita","year":"2002","journal-title":"J. Neurosci."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1093\/oxfordjournals.jhered.a108176","article-title":"Three syndromes produced by two mutant genes in the mouse. Clinical, pathological, and ultrastructural bases of tottering, leaner, and heterozygous mice","volume":"62","author":"Meier","year":"1971","journal-title":"J. Hered."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/0361-9230(94)00207-H","article-title":"Cerebellar volume decreases in the tottering mouse are specific to the molecular layer","volume":"36","author":"Isaacs","year":"1995","journal-title":"Brain Res. Bull."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/S0306-4522(98)00518-1","article-title":"An ultrastructural study of granule cell\/Purkinje cell synapses in tottering (tg\/tg), leaner (tg(la)\/tg(la)) and compound heterozygous tottering\/leaner (tg\/tg(la)) mice","volume":"90","author":"Rhyu","year":"1999","journal-title":"Neuroscience"},{"key":"ref_48","first-page":"281","article-title":"The observation of rolling mouse Nagoya (rol), a new neurological mutant, and its maintenance (author\u2019s transl)","volume":"22","author":"Oda","year":"1973","journal-title":"Jikken Dobutsu"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1007\/s12311-009-0117-5","article-title":"The ataxic Cacna1a-mutant mouse rolling nagoya: An overview of neuromorphological and electrophysiological findings","volume":"8","author":"Plomp","year":"2009","journal-title":"Cerebellum"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0006-8993(09)90014-2","article-title":"Purkinje cell loss from alternating sagittal zones in the cerebellum of leaner mutant mice","volume":"658","author":"Heckroth","year":"1994","journal-title":"Brain Res."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.neures.2012.04.006","article-title":"Ca2+ channel currents in dorsal root ganglion neurons of P\/Q-type voltage-gated Ca2+ channel mutant mouse, rolling mouse Nagoya","volume":"73","author":"Fukumoto","year":"2012","journal-title":"Neurosci. Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"5654","DOI":"10.1523\/JNEUROSCI.20-15-05654.2000","article-title":"Reduced voltage sensitivity of activation of P\/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol))","volume":"20","author":"Mori","year":"2000","journal-title":"J. Neurosci."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.brainres.2006.10.086","article-title":"The ataxic groggy rat has a missense mutation in the P\/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures","volume":"1133","author":"Tokuda","year":"2007","journal-title":"Brain Res."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1111\/j.1601-183X.2007.00302.x","article-title":"Forward genetic screen of mouse reveals dominant missense mutation in the P\/Q-type voltage-dependent calcium channel, CACNA1A","volume":"6","author":"Xie","year":"2007","journal-title":"Genes Brain Behav."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"3195","DOI":"10.1038\/s41467-018-05765-6","article-title":"Elongator mutation in mice induces neurodegeneration and ataxia-like behavior","volume":"9","author":"Kojic","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.neuroscience.2008.05.028","article-title":"Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies","volume":"155","author":"Miki","year":"2008","journal-title":"Neuroscience"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"Rc14","DOI":"10.1523\/JNEUROSCI.19-12-j0004.1999","article-title":"Direct alteration of the P\/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6","volume":"19","author":"Matsuyama","year":"1999","journal-title":"J. Neurosci."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"10893","DOI":"10.1074\/jbc.275.15.10893","article-title":"Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function","volume":"275","author":"Toru","year":"2000","journal-title":"J. Biol. Chem."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.mcn.2006.11.006","article-title":"Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells","volume":"34","author":"Saegusa","year":"2007","journal-title":"Mol. Cell. Neurosci."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"11987","DOI":"10.1073\/pnas.0804350105","article-title":"Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels","volume":"105","author":"Watase","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/ncn3.137","article-title":"Spinocerebellar ataxia type 6: Lessons from faithfull knck-in mouse models","volume":"3","author":"Watase","year":"2015","journal-title":"Neurol. Clin. Neurosci."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Jayabal, S., Ljungberg, L., Erwes, T., Cormier, A., Quilez, S., El Jaouhari, S., and Watt, A.J. (2015). Rapid Onset of Motor Deficits in a Mouse Model of Spinocerebellar Ataxia Type 6 Precedes Late Cerebellar Degeneration1,2,3. eNeuro, 2.","DOI":"10.1523\/ENEURO.0094-15.2015"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1113\/JP273184","article-title":"Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6","volume":"595","author":"Jayabal","year":"2017","journal-title":"J. Physiol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1016\/j.ajhg.2015.09.007","article-title":"A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia","volume":"97","author":"Coutelier","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1186\/s13041-015-0180-4","article-title":"A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia","volume":"8","author":"Morino","year":"2015","journal-title":"Mol. Brain"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1038\/jhg.2017.51","article-title":"SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia","volume":"62","author":"Kimura","year":"2017","journal-title":"J. Hum. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"e232","DOI":"10.1212\/NXG.0000000000000232","article-title":"Expanding the global prevalence of spinocerebellar ataxia type 42","volume":"4","author":"Ngo","year":"2018","journal-title":"Neurol. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1523\/JNEUROSCI.19-06-01895.1999","article-title":"Differential distribution of three members of a gene family encoding low voltage-activated (T-type) calcium channels","volume":"19","author":"Talley","year":"1999","journal-title":"J. Neurosci."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1023\/B:JOBB.0000008025.65675.37","article-title":"Modulation and pharmacology of low voltage-activated (\u201cT-Type\u201d) calcium channels","volume":"35","author":"Yunker","year":"2003","journal-title":"J. Bioenerg. Biomembr."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"2949","DOI":"10.1046\/j.1460-9568.1999.00711.x","article-title":"Distribution of the voltage-dependent calcium channel alpha1G subunit mRNA and protein throughout the mature rat brain","volume":"11","author":"Craig","year":"1999","journal-title":"Eur. J. Neurosci."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"5555","DOI":"10.1073\/pnas.0601261103","article-title":"Specific T-type calcium channel isoforms are associated with distinct burst phenotypes in deep cerebellar nuclear neurons","volume":"103","author":"Molineux","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.biocel.2019.01.008","article-title":"T-type calcium channels: From molecule to therapeutic opportunities","volume":"108","author":"Weiss","year":"2019","journal-title":"Int. J. Biochem. Cell. Biol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"9650","DOI":"10.1523\/JNEUROSCI.23-29-09650.2003","article-title":"Ionic Mechanisms of Burst Firing in Dissociated Purkinje Neurons","volume":"23","author":"Swensen","year":"2003","journal-title":"J. Neurosci."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"3511","DOI":"10.1523\/JNEUROSCI.0290-04.2004","article-title":"Dendritic control of spontaneous bursting in cerebellar Purkinje cells","volume":"24","author":"Womack","year":"2004","journal-title":"J. Neurosci."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"9668","DOI":"10.1523\/JNEUROSCI.0362-09.2009","article-title":"Functional coupling between mGluR1 and Cav3.1 T-type calcium channels contributes to parallel fiber-induced fast calcium signaling within Purkinje cell dendritic spines","volume":"29","author":"Hildebrand","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"20302","DOI":"10.1073\/pnas.1311686110","article-title":"T-type channel blockade impairs long-term potentiation at the parallel fiber-Purkinje cell synapse and cerebellar learning","volume":"110","author":"Ly","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"104516","DOI":"10.1016\/j.nbd.2019.104516","article-title":"Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42","volume":"130","author":"Hashiguchi","year":"2019","journal-title":"Neurobiol. Dis."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1016\/j.celrep.2016.06.053","article-title":"Ionic Basis for Membrane Potential Resonance in Neurons of the Inferior Olive","volume":"16","author":"Nakayama","year":"2016","journal-title":"Cell Rep."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"3031","DOI":"10.1113\/jphysiol.2009.184705","article-title":"Subthreshold membrane potential oscillations in inferior olive neurons are dynamically regulated by P\/Q- and T-type calcium channels: A study in mutant mice","volume":"588","author":"Choi","year":"2010","journal-title":"J. Physiol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0896-6273(01)00343-9","article-title":"Lack of the burst firing of thalamocortical relay neurons and resistance to absence seizures in mice lacking alpha(1G) T-type Ca(2+) channels","volume":"31","author":"Kim","year":"2001","journal-title":"Neuron"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"10731","DOI":"10.1073\/pnas.1002995107","article-title":"Ca(V)3.1 is a tremor rhythm pacemaker in the inferior olive","volume":"107","author":"Park","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1751","DOI":"10.1212\/WNL.0000000000001524","article-title":"GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia","volume":"84","author":"Coutelier","year":"2015","journal-title":"Neurology"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF02985337","article-title":"\u201cLurcher\u201d, a new gene in linkage group XI of the house mouse","volume":"57","author":"Phillips","year":"1960","journal-title":"J. Genet."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/0165-3806(95)00212-X","article-title":"Developmental changes in expression and distribution of the glutamate receptor channel delta 2 subunit according to the Purkinje cell maturation","volume":"92","author":"Takayama","year":"1996","journal-title":"Dev. Brain Res."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1523\/JNEUROSCI.17-02-00834.1997","article-title":"Differential localization of delta glutamate receptors in the rat cerebellum: Coexpression with AMPA receptors in parallel fiber-spine synapses and absence from climbing fiber-spine synapses","volume":"17","author":"Landsend","year":"1997","journal-title":"J. Neurosci."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/0014-5793(92)80160-I","article-title":"Cloning, expression and modulation of a mouse NMDA receptor subunit","volume":"300","author":"Yamazaki","year":"1992","journal-title":"FEBS Lett."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/sj.embor.7400312","article-title":"Rescue of abnormal phenotypes of the delta2 glutamate receptor-null mice by mutant delta2 transgenes","volume":"6","author":"Hirai","year":"2005","journal-title":"EMBO Rep."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"5738","DOI":"10.1523\/JNEUROSCI.6013-08.2009","article-title":"The N-terminal domain of GluD2 (GluRdelta2) recruits presynaptic terminals and regulates synaptogenesis in the cerebellum in vivo","volume":"29","author":"Kakegawa","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/0092-8674(95)90334-8","article-title":"Impairment of motor coordination, Purkinje cell synapse formation, and cerebellar long-term depression in GluR delta 2 mutant mice","volume":"81","author":"Kashiwabuchi","year":"1995","journal-title":"Cell"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1016\/j.bbrc.2008.10.170","article-title":"The amino-terminal domain of glutamate receptor delta2 triggers presynaptic differentiation","volume":"377","author":"Uemura","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"9613","DOI":"10.1523\/JNEUROSCI.17-24-09613.1997","article-title":"Impaired parallel fiber\u2192Purkinje cell synapse stabilization during cerebellar development of mutant mice lacking the glutamate receptor delta2 subunit","volume":"17","author":"Kurihara","year":"1997","journal-title":"J. Neurosci."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"8487","DOI":"10.1523\/JNEUROSCI.22-19-08487.2002","article-title":"Distal extension of climbing fiber territory and multiple innervation caused by aberrant wiring to adjacent spiny branchlets in cerebellar Purkinje cells lacking glutamate receptor delta 2","volume":"22","author":"Ichikawa","year":"2002","journal-title":"J. Neurosci."},{"key":"ref_93","doi-asserted-by":"crossref","unstructured":"Miyoshi, Y., Yoshioka, Y., Suzuki, K., Miyazaki, T., Koura, M., Saigoh, K., Kajimura, N., Monobe, Y., Kusunoki, S., and Matsuda, J. (2014). A new mouse allele of glutamate receptor delta 2 with cerebellar atrophy and progressive ataxia. PLoS ONE, 9.","DOI":"10.1371\/journal.pone.0107867"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"2400","DOI":"10.1523\/JNEUROSCI.17-07-02400.1997","article-title":"Massive loss of mid- and hindbrain neurons during embryonic development of homozygous lurcher mice","volume":"17","author":"Cheng","year":"1997","journal-title":"J. Neurosci."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/0031-9384(92)90174-Z","article-title":"Motor abnormalities in lurcher mutant mice","volume":"51","author":"Lalonde","year":"1992","journal-title":"Physiol. Behav."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.brainres.2005.11.086","article-title":"The Lurcher mouse: Fresh insights from an old mutant","volume":"1140","author":"Vogel","year":"2007","journal-title":"Brain Res."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/42009","article-title":"Neurodegeneration in Lurcher mice caused by mutation in delta2 glutamate receptor gene","volume":"388","author":"Zuo","year":"1997","journal-title":"Nature"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"5973","DOI":"10.1523\/JNEUROSCI.20-16-05973.2000","article-title":"The Lurcher mutation identifies delta 2 as an AMPA\/kainate receptor-like channel that is potentiated by Ca(2+)","volume":"20","author":"Wollmuth","year":"2000","journal-title":"J. Neurosci."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"2177","DOI":"10.1523\/JNEUROSCI.6030-09.2010","article-title":"Reevaluation of neurodegeneration in lurcher mice: Constitutive ion fluxes cause cell death with, not by, autophagy","volume":"30","author":"Nishiyama","year":"2010","journal-title":"J. Neurosci."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"568","DOI":"10.4161\/auto.6.4.11951","article-title":"Excitotoxicity and autophagy: Lurcher may not be a model of \u201cautophagic cell death\u201d","volume":"6","author":"Nishiyama","year":"2010","journal-title":"Autophagy"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1086\/373883","article-title":"Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia","volume":"72","author":"Chen","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_102","doi-asserted-by":"crossref","unstructured":"Guerra, G., Lucariello, A., Perna, A., Botta, L., De Luca, A., and Moccia, F. (2018). The Role of Endothelial Ca(2+) Signaling in Neurovascular Coupling: A View from the Lumen. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19040938"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1093\/oxfordjournals.jbchem.a003274","article-title":"Protein kinase C gamma (PKC gamma): Function of neuron specific isotype","volume":"132","author":"Saito","year":"2002","journal-title":"J. Biochem."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/s12311-017-0898-x","article-title":"Protein Kinase C in the Cerebellum: Its Significance and Remaining Conundrums","volume":"17","author":"Hirai","year":"2018","journal-title":"Cerebellum"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1097\/00001756-199404000-00019","article-title":"Prominent expression of protein kinase C (gamma) mRNA in the dendrite-rich neuropil of mice cerebellum at the critical period for synaptogenesis","volume":"5","author":"Moriya","year":"1994","journal-title":"Neuroreport"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1016\/0092-8674(95)90147-7","article-title":"Impaired synapse elimination during cerebellar development in PKC gamma mutant mice","volume":"83","author":"Kano","year":"1995","journal-title":"Cell"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/1096-9861(20001113)427:2<235::AID-CNE6>3.0.CO;2-6","article-title":"Regional and cellular distribution of protein kinase C in rat cerebellar Purkinje cells","volume":"427","author":"Barmack","year":"2000","journal-title":"J. Comp. Neurol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1016\/0092-8674(95)90148-5","article-title":"Impaired motor coordination correlates with persistent multiple climbing fiber innervation in PKC gamma mutant mice","volume":"83","author":"Chen","year":"1995","journal-title":"Cell"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/S0166-2236(98)01310-1","article-title":"Microcircuitry and function of the inferior olive","volume":"21","author":"Simpson","year":"1998","journal-title":"Trends Neurosci."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1212\/01.WNL.0000098883.79421.73","article-title":"Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family","volume":"61","author":"Verbeek","year":"2003","journal-title":"Neurology"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1001\/archneur.59.8.1291","article-title":"A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter","volume":"59","author":"Brkanac","year":"2002","journal-title":"Arch. Neurol."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1093\/brain\/awh378","article-title":"Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting","volume":"128","author":"Verbeek","year":"2005","journal-title":"Brain"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"19854","DOI":"10.1074\/jbc.M801492200","article-title":"Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis","volume":"283","author":"Adachi","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"3901","DOI":"10.1002\/jcp.26152","article-title":"TRPC3-mediated Ca(2+) signals as a promising strategy to boost therapeutic angiogenesis in failing hearts: The role of autologous endothelial colony forming cells","volume":"233","author":"Moccia","year":"2018","journal-title":"J. Cell. Physiol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1242\/jcs.027698","article-title":"PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling","volume":"121","author":"Verbeek","year":"2008","journal-title":"J. Cell. Sci."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.4103\/1673-5374.169606","article-title":"A role for mitogen-activated protein kinase phosphatase 1 (MKP1) in neural cell development and survival","volume":"10","author":"Toulouse","year":"2015","journal-title":"Neural Regen. Res."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.bbrc.2008.11.082","article-title":"Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse","volume":"378","author":"Zhang","year":"2009","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.nbd.2014.06.002","article-title":"Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14","volume":"70","author":"Ji","year":"2014","journal-title":"Neurobiol. Dis."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"6706","DOI":"10.1073\/pnas.0810599106","article-title":"A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice","volume":"106","author":"Becker","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"4114","DOI":"10.1093\/hmg\/ddv150","article-title":"The mutant Moonwalker TRPC3 channel links calcium signaling to lipid metabolism in the developing cerebellum","volume":"24","author":"Dulneva","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1007\/s12311-014-0564-5","article-title":"The Moonwalker mouse: New insights into TRPC3 function, cerebellar development, and ataxia","volume":"13","author":"Becker","year":"2014","journal-title":"Cerebellum"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"a003962","DOI":"10.1101\/cshperspect.a003962","article-title":"The role of transient receptor potential cation channels in Ca2+ signaling","volume":"2","author":"Gees","year":"2010","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1007\/s00109-015-1298-7","article-title":"TRPC3-dependent synaptic transmission in central mammalian neurons","volume":"93","author":"Hartmann","year":"2015","journal-title":"J. Mol. Med."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/s12311-013-0455-1","article-title":"TRPC3 channel underlies cerebellar long-term depression","volume":"12","author":"Kim","year":"2013","journal-title":"Cerebellum"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1007\/s12311-015-0663-y","article-title":"From mice to men: TRPC3 in cerebellar ataxia","volume":"16","author":"Becker","year":"2017","journal-title":"Cerebellum"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1089\/scd.2013.0032","article-title":"Canonical transient receptor potential 3 channel triggers vascular endothelial growth factor-induced intracellular Ca2+ oscillations in endothelial progenitor cells isolated from umbilical cord blood","volume":"22","author":"Dragoni","year":"2013","journal-title":"Stem Cells Dev."},{"key":"ref_127","doi-asserted-by":"crossref","unstructured":"Moccia, F., Negri, S., Shekha, M., Faris, P., and Guerra, G. (2019). Endothelial Ca2+ Signaling, Angiogenesis and Vasculogenesis: Just What It Takes to Make a Blood Vessel. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20163962"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"19689","DOI":"10.1523\/JNEUROSCI.2294-13.2013","article-title":"Early Onset of Ataxia in Moonwalker Mice Is Accompanied by Complete Ablation of Type II Unipolar Brush Cells and Purkinje Cell Dysfunction","volume":"33","author":"Kim","year":"2013","journal-title":"J. Neurosci."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1016\/j.neuron.2008.06.009","article-title":"TRPC3 Channels Are Required for Synaptic Transmission and Motor Coordination","volume":"59","author":"Hartmann","year":"2008","journal-title":"Neuron"},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ceca.2006.11.002","article-title":"Changes in TRPC channel expression during postnatal development of cerebellar neurons","volume":"42","author":"Huang","year":"2007","journal-title":"Cell Calcium"},{"key":"ref_131","doi-asserted-by":"crossref","unstructured":"Negri, S., Faris, P., Pellavio, G., Botta, L., Orgiu, M., Forcaia, G., Sancini, G., Laforenza, U., and Moccia, F. (2019). Group 1 metabotropic glutamate receptors trigger glutamate-induced intracellular Ca2+ signals and nitric oxide release in human brain microvascular endothelial cells. Cell. Mol. Life Sci., 1\u201319.","DOI":"10.1007\/s00018-019-03284-1"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"153","DOI":"10.3389\/fncel.2015.00153","article-title":"Stim and Orai proteins in neuronal Ca2+ signaling and excitability","volume":"9","author":"Moccia","year":"2015","journal-title":"Front. Cell. Neurosci."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/B978-0-12-407870-3.00007-X","article-title":"Contribution and Regulation of TRPC Channels in Store-Operated Ca2+ Entry","volume":"71","author":"Cheng","year":"2013","journal-title":"Curr. Top. Membr."},{"key":"ref_134","unstructured":"Zhu, M. (2011). Proteomic analysis of TRPC channels. TRP Channels, CRC Press."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"4040","DOI":"10.1073\/pnas.0510050103","article-title":"STIM1 has a plasma membrane role in the activation of store-operated Ca2+ channels","volume":"103","author":"Spassova","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1007\/978-3-540-34891-7_34","article-title":"TRPC channels: Integrators of multiple cellular signals","volume":"Volume 179","author":"Flockerzi","year":"2007","journal-title":"Transient Receptor Potential (TRP) Channels"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"e02536","DOI":"10.7554\/eLife.02536","article-title":"Cerebellar modules operate at different frequencies","volume":"3","author":"Zhou","year":"2014","journal-title":"eLife"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.neuron.2005.04.022","article-title":"Calcium signaling and the control of dendritic development","volume":"46","author":"Konur","year":"2005","journal-title":"Neuron"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/S0306-4522(01)00559-0","article-title":"Altered dendritic development of cerebellar Purkinje cells in slice cultures from protein kinase Cgamma-deficient mice","volume":"110","author":"Schrenk","year":"2002","journal-title":"Neuroscience"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/S0306-4522(01)00188-9","article-title":"Developmental changes in the localisation of the mGluR1alpha subtype of metabotropic glutamate receptors in Purkinje cells","volume":"105","author":"Shigemoto","year":"2001","journal-title":"Neuroscience"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"29031","DOI":"10.1074\/jbc.M302751200","article-title":"Regulation of canonical transient receptor potential (TRPC) channel function by diacylglycerol and protein kinase C","volume":"278","author":"Venkatachalam","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1124\/mol.104.007252","article-title":"Negative regulation of TRPC3 channels by protein kinase C-mediated phosphorylation of serine 712","volume":"67","author":"Trebak","year":"2005","journal-title":"Mol. Pharmacol."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1096\/fj.09-134973","article-title":"Activation of native TRPC3 cation channels by phospholipase D","volume":"24","author":"Glitsch","year":"2010","journal-title":"FASEB J."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1007\/s12035-008-8025-0","article-title":"To gate or not to gate: Are the delta subunits in the glutamate receptor family functional ion channels?","volume":"37","author":"Schmid","year":"2008","journal-title":"Mol. Neurobiol."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/embr.201337371","article-title":"Type 1 metabotropic glutamate receptors (mGlu1) trigger the gating of GluD2 delta glutamate receptors","volume":"15","author":"Ady","year":"2014","journal-title":"EMBO Rep."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"15296","DOI":"10.1523\/JNEUROSCI.0705-12.2012","article-title":"Glutamate Receptor \u03b42 Associates with Metabotropic Glutamate Receptor 1 (mGluR1), Protein Kinase C\u03b3, and Canonical Transient Receptor Potential 3 and Regulates mGluR1-Mediated Synaptic Transmission in Cerebellar Purkinje Neurons","volume":"32","author":"Kato","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1016\/j.neuron.2016.02.011","article-title":"Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways","volume":"89","author":"Ingram","year":"2016","journal-title":"Neuron"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/72101","article-title":"Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1","volume":"3","author":"Lin","year":"2000","journal-title":"Nat. Neurosci."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"3069","DOI":"10.1093\/hmg\/ddx191","article-title":"Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2","volume":"26","author":"Pflieger","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"P1.009","DOI":"10.1212\/WNL.86.16_supplement.P1.009","article-title":"Mutation of the Murine Ataxia Gene TRPC3 Causes Cerebellar Ataxia in Humans (P1.009)","volume":"86","author":"Fogel","year":"2016","journal-title":"Neurology"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1002\/mds.26096","article-title":"Do Mutations in the Murine Ataxia Gene TRPC3 Cause Cerebellar Ataxia in Humans?","volume":"30","author":"Fogel","year":"2015","journal-title":"Mov. Disord."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1007\/s12311-011-0253-6","article-title":"Candidate screening of the TRPC3 gene in cerebellar ataxia","volume":"10","author":"Becker","year":"2011","journal-title":"Cerebellum"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1007\/978-94-007-2888-2_11","article-title":"Inositol 1,4,5-trisphosphate and its receptors","volume":"740","author":"Parys","year":"2012","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1152\/physrev.00035.2006","article-title":"Inositol trisphosphate receptor Ca2+ release channels","volume":"87","author":"Foskett","year":"2007","journal-title":"Physiol. Rev."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"a004010","DOI":"10.1101\/cshperspect.a004010","article-title":"IP(3) receptors: Toward understanding their activation","volume":"2","author":"Taylor","year":"2010","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"2164","DOI":"10.1016\/j.bbamcr.2014.03.007","article-title":"Inositol 1,4,5-trisphosphate receptor-isoform diversity in cell death and survival","volume":"1843","author":"Ivanova","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.biolcel.2003.11.004","article-title":"Subcellular distribution of the inositol 1,4,5-trisphosphate receptors: Functional relevance and molecular determinants","volume":"96","author":"Vermassen","year":"2004","journal-title":"Biol. Cell"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/(SICI)1096-9861(19990405)406:2<207::AID-CNE6>3.0.CO;2-7","article-title":"Differential cellular expression of isoforms of inositol 1,4,5-triphosphate receptors in neurons and glia in brain","volume":"406","author":"Sharp","year":"1999","journal-title":"J. Comp. Neurol."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"2075","DOI":"10.1523\/JNEUROSCI.11-07-02075.1991","article-title":"Immunohistochemical localization of an inositol 1,4,5-trisphosphate receptor, P400, in neural tissue: Studies in developing and adult mouse brain","volume":"11","author":"Nakanishi","year":"1991","journal-title":"J. Neurosci."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1042\/bj3020781","article-title":"Human inositol 1,4,5-trisphosphate type-1 receptor, InsP3R1: Structure, function, regulation of expression and chromosomal localization","volume":"302","author":"Yamada","year":"1994","journal-title":"Biochem. J."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1007\/s11064-010-0393-y","article-title":"Role of inositol 1,4,5-trisphosphate receptors in pathogenesis of Huntington\u2019s disease and spinocerebellar ataxias","volume":"36","author":"Bezprozvanny","year":"2011","journal-title":"Neurochem. Res."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1007\/s11064-010-0371-4","article-title":"Calcium signalling and Alzheimer\u2019s disease","volume":"36","author":"Berridge","year":"2011","journal-title":"Neurochem. Res."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1136\/jmg.2010.087023","article-title":"Spinocerebellar ataxia type 15: Diagnostic assessment, frequency, and phenotypic features","volume":"48","author":"Synofzik","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_164","doi-asserted-by":"crossref","unstructured":"Van de Leemput, J., Chandran, J., Knight, M.A., Holtzclaw, L.A., Scholz, S., Cookson, M.R., Houlden, H., Gwinn-Hardy, K., Fung, H.C., and Lin, X. (2007). Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet., 3.","DOI":"10.1371\/journal.pgen.0030108"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1212\/WNL.57.10.1913","article-title":"A new autosomal dominant pure cerebellar ataxia","volume":"57","author":"Storey","year":"2001","journal-title":"Neurology"},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1001\/archneurol.2011.81","article-title":"SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia","volume":"68","author":"Marelli","year":"2011","journal-title":"Arch. Neurol."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s12311-009-0154-0","article-title":"Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15","volume":"9","author":"Orsi","year":"2010","journal-title":"Cerebellum"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1212\/01.wnl.0000311277.71046.a0","article-title":"Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families","volume":"71","author":"Hara","year":"2008","journal-title":"Neurology"},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1136\/jmg.2007.053942","article-title":"Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16","volume":"45","author":"Iwaki","year":"2008","journal-title":"J. Med. Genet."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1136\/jmg.2007.056341","article-title":"\u201cSCA16\u201d is really SCA15","volume":"45","author":"Gardner","year":"2008","journal-title":"J. Med. Genet."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1186\/s13023-017-0672-7","article-title":"Spinocerebellar ataxia type 29 due to mutations in ITPR1: A case series and review of this emerging congenital ataxia","volume":"12","author":"Zambonin","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1750-1172-7-67","article-title":"Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia","volume":"7","author":"Huang","year":"2012","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1042\/bj20030110","article-title":"Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1","volume":"372","author":"Hirota","year":"2003","journal-title":"Biochem. J."},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1016\/j.bbamcr.2018.06.004","article-title":"Pathophysiological consequences of isoform-specific IP3 receptor mutations","volume":"1865","author":"Kerkhofs","year":"2018","journal-title":"Biochim. Biophys. Acta Mol. Cell Res."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1523\/JNEUROSCI.17-02-00635.1997","article-title":"The type 1 inositol 1,4,5-trisphosphate receptor gene is altered in the opisthotonos mouse","volume":"17","author":"Street","year":"1997","journal-title":"J. Neurosci."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1146\/annurev.biochem.73.071403.161303","article-title":"Inositol 1,4,5-trisphosphate receptors as signal integrators","volume":"73","author":"Patterson","year":"2004","journal-title":"Annu. Rev. Biochem."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1016\/S0006-3495(02)75548-3","article-title":"Functional characterization of the type 1 inositol 1,4,5-trisphosphate receptor coupling domain SII(+\/\u2212) splice variants and the Opisthotonos mutant form","volume":"82","author":"Tu","year":"2002","journal-title":"Biophys. J."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/379168a0","article-title":"Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor","volume":"379","author":"Matsumoto","year":"1996","journal-title":"Nature"},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1007\/s001090050370","article-title":"Type 1 inositol 1,4,5-trisphosphate receptor knock-out mice: Their phenotypes and their meaning in neuroscience and clinical practice","volume":"77","author":"Matsumoto","year":"1999","journal-title":"J. Mol. Med."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"5366","DOI":"10.1523\/JNEUROSCI.18-14-05366.1998","article-title":"Type 1 inositol 1,4,5-trisphosphate receptor is required for induction of long-term depression in cerebellar Purkinje neurons","volume":"18","author":"Inoue","year":"1998","journal-title":"J. Neurosci."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"156","DOI":"10.3389\/fncir.2013.00156","article-title":"IP3R1 deficiency in the cerebellum\/brainstem causes basal ganglia-independent dystonia by triggering tonic Purkinje cell firings in mice","volume":"7","author":"Hisatsune","year":"2013","journal-title":"Front. Neural Circuits"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1038\/ejhg.2017.54","article-title":"A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers","volume":"25","author":"Klar","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng1194-221","article-title":"CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1","volume":"8","author":"Kawaguchi","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/ng1196-285","article-title":"Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG\/glutamine repeats","volume":"14","author":"Imbert","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1196-269","article-title":"Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2","volume":"14","author":"Pulst","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/ng1196-277","article-title":"Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT","volume":"14","author":"Sanpei","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/ana.410410408","article-title":"Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain","volume":"41","author":"Paulson","year":"1997","journal-title":"Ann. Neurol."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1006\/nbdi.1998.0208","article-title":"Heterogeneous intracellular localization and expression of ataxin-3","volume":"5","author":"Trottier","year":"1998","journal-title":"Neurobiol. Dis."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/79162","article-title":"Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human","volume":"26","author":"Huynh","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S1474-4422(04)00737-9","article-title":"Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis","volume":"3","author":"Schols","year":"2004","journal-title":"Lancet Neurol."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s12311-008-0019-y","article-title":"Spinocerebellar ataxia 2 (SCA2)","volume":"7","author":"Rub","year":"2008","journal-title":"Cerebellum"},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/978-3-319-71779-1_11","article-title":"The Neuropathology of Spinocerebellar Ataxia Type 3\/Machado-Joseph Disease","volume":"1049","author":"Koeppen","year":"2018","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1212\/WNL.28.7.703","article-title":"Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions","volume":"28","author":"Coutinho","year":"1978","journal-title":"Neurology"},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"2297","DOI":"10.1093\/brain\/awh586","article-title":"Spinocerebellar ataxia type 2: PolyQ repeat variation in the CACNA1A calcium channel modifies age of onset","volume":"128","author":"Pulst","year":"2005","journal-title":"Brain"},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.bbrc.2005.10.186","article-title":"Generation and characterization of Sca2 (ataxin-2) knockout mice","volume":"339","author":"Kiehl","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"2840","DOI":"10.1152\/jn.00913.2015","article-title":"In vivo analysis of cerebellar Purkinje cell activity in SCA2 transgenic mouse model","volume":"115","author":"Egorova","year":"2016","journal-title":"J. Neurophysiol."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"12786","DOI":"10.1523\/JNEUROSCI.1643-12.2012","article-title":"Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 mice","volume":"32","author":"Kasumu","year":"2012","journal-title":"J. Neurosci."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1113\/jphysiol.2002.027854","article-title":"Distinct contributions of small and large conductance Ca2+-activated K+ channels to rat Purkinje neuron function","volume":"548","author":"Edgerton","year":"2003","journal-title":"J. Physiol."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"2600","DOI":"10.1523\/JNEUROSCI.23-07-02600.2003","article-title":"Somatic and dendritic small-conductance calcium-activated potassium channels regulate the output of cerebellar Purkinje neurons","volume":"23","author":"Womack","year":"2003","journal-title":"J. Neurosci."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1016\/j.chembiol.2012.07.013","article-title":"Selective positive modulator of calcium-activated potassium channels exerts beneficial effects in a mouse model of spinocerebellar ataxia type 2","volume":"19","author":"Kasumu","year":"2012","journal-title":"Chem. Biol."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/1531-8249(199902)45:2<232::AID-ANA14>3.0.CO;2-7","article-title":"Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer\u2019s disease and spinocerebellar ataxia 2","volume":"45","author":"Huynh","year":"1999","journal-title":"Ann. Neurol."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1038\/nrg2748","article-title":"Repeat expansion disease: Progress and puzzles in disease pathogenesis","volume":"11","author":"Taylor","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"1737","DOI":"10.1111\/j.1471-4159.2009.06302.x","article-title":"The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies","volume":"110","author":"Bauer","year":"2009","journal-title":"J. Neurochem."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"12713","DOI":"10.1523\/JNEUROSCI.3909-08.2008","article-title":"Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3","volume":"28","author":"Chen","year":"2008","journal-title":"J. Neurosci."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"18851","DOI":"10.1074\/jbc.M611914200","article-title":"Calpain inhibition is sufficient to suppress aggregation of polyglutamine-expanded ataxin-3","volume":"282","author":"Haacke","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.nbd.2008.03.011","article-title":"Polyglutamine-expanded ataxin-3 causes cerebellar dysfunction of SCA3 transgenic mice by inducing transcriptional dysregulation","volume":"31","author":"Chou","year":"2008","journal-title":"Neurobiol. Dis."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/1043-4682(95)90012-8","article-title":"Spinocerebellar ataxia type 1","volume":"6","author":"Zoghbi","year":"1995","journal-title":"Semin. Cell Biol."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/ng0793-221","article-title":"Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1","volume":"4","author":"Orr","year":"1993","journal-title":"Nat. Genet."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/ng0894-513","article-title":"Identification and characterization of the gene causing type 1 spinocerebellar ataxia","volume":"7","author":"Banfi","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1038\/35039051","article-title":"Molecular genetics: Unmasking polyglutamine triggers in neurodegenerative disease","volume":"1","author":"Gusella","year":"2000","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1007\/s12311-008-0009-0","article-title":"Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1","volume":"7","author":"Goold","year":"2008","journal-title":"Cerebellum"},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1038\/ng0595-94","article-title":"Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals","volume":"10","author":"Servadio","year":"1995","journal-title":"Nat. Genet."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/S1474-4422(10)70183-6","article-title":"Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond","volume":"9","author":"Durr","year":"2010","journal-title":"Lancet Neurol."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00401-012-1000-x","article-title":"Brain pathology of spinocerebellar ataxias","volume":"124","author":"Seidel","year":"2012","journal-title":"Acta Neuropathol."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1007\/s12311-013-0456-0","article-title":"The reciprocal cerebellar circuitry in human hereditary ataxia","volume":"12","author":"Koeppen","year":"2013","journal-title":"Cerebellum"},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1007\/BF00318569","article-title":"Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype","volume":"90","author":"Robitaille","year":"1995","journal-title":"Acta Neuropathol."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1038\/40153","article-title":"Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures","volume":"389","author":"Skinner","year":"1997","journal-title":"Nature"},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s004010050975","article-title":"Nuclear inclusions in spinocerebellar ataxia type 1","volume":"97","author":"Duyckaerts","year":"1999","journal-title":"Acta Neuropathol."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1002\/cne.901930417","article-title":"The Purkinje neuron: I. A Golgi study of its development in the mouse and in culture","volume":"193","author":"Hendelman","year":"1980","journal-title":"J. Comp. Neurol."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1093\/hmg\/5.1.33","article-title":"Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1)","volume":"5","author":"Banfi","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"5508","DOI":"10.1523\/JNEUROSCI.18-14-05508.1998","article-title":"Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation","volume":"18","author":"Matilla","year":"1998","journal-title":"J. Neurosci."},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1016\/0092-8674(95)90273-2","article-title":"SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat","volume":"82","author":"Burright","year":"1995","journal-title":"Cell"},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"7385","DOI":"10.1523\/JNEUROSCI.17-19-07385.1997","article-title":"Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations","volume":"17","author":"Clark","year":"1997","journal-title":"J. Neurosci."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1093\/jnen\/59.4.265","article-title":"Spinocerebellar ataxia type 1\u2014Modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice","volume":"59","author":"Clark","year":"2000","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"12778","DOI":"10.1523\/JNEUROSCI.2579-11.2011","article-title":"Abnormalities in the Climbing Fiber-Purkinje Cell Circuitry Contribute to Neuronal Dysfunction in ATXN1[82Q] Mice","volume":"31","author":"Barnes","year":"2011","journal-title":"J. Neurosci."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1212\/WNL.50.1.106","article-title":"Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice","volume":"50","author":"Vig","year":"1998","journal-title":"Neurology"},{"key":"ref_227","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S0361-9230(01)00595-0","article-title":"Calcium homeostasis and spinocerebellar ataxia-1 (SCA-1)","volume":"56","author":"Vig","year":"2001","journal-title":"Brain Res. Bull."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1007\/s00415-009-5380-3","article-title":"The metabotropic glutamate receptor 1, GRM1: Evaluation as a candidate gene for inherited forms of cerebellar ataxia","volume":"257","author":"Rossi","year":"2010","journal-title":"J. Neurol."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.ajhg.2012.07.019","article-title":"Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1","volume":"91","author":"Guergueltcheva","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.ajhg.2017.08.005","article-title":"Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44","volume":"101","author":"Watson","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"8853","DOI":"10.1523\/JNEUROSCI.2978-04.2004","article-title":"Recovery from polyglutamine-induced neurodegeneration in conditional SCA1 transgenic mice","volume":"24","author":"Zu","year":"2004","journal-title":"J. Neurosci."},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1113\/JP272950","article-title":"Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice","volume":"595","author":"Shuvaev","year":"2017","journal-title":"J. Physiol."},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"6","DOI":"10.3389\/fnsyn.2018.00006","article-title":"Purkinje Cell Signaling Deficits in Animal Models of Ataxia","volume":"10","author":"Hoxha","year":"2018","journal-title":"Front. Synaptic Neurosci."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s12311-013-0516-5","article-title":"Mutant ataxin-3 with an abnormally expanded polyglutamine chain disrupts dendritic development and metabotropic glutamate receptor signaling in mouse cerebellar Purkinje cells","volume":"13","author":"Konno","year":"2014","journal-title":"Cerebellum"},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1093\/hmg\/dds427","article-title":"Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2","volume":"22","author":"Hansen","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_236","doi-asserted-by":"crossref","first-page":"e26377","DOI":"10.7554\/eLife.26377","article-title":"A positive feedback loop linking enhanced mGluR function and basal calcium in spinocerebellar ataxia type 2","volume":"6","author":"Meera","year":"2017","journal-title":"Elife"},{"key":"ref_237","doi-asserted-by":"crossref","unstructured":"Bezprozvanny, I., and Klockgether, T. (2009). Therapeutic prospects for spinocerebellar ataxia type 2 and 3. Drugs Future, 34.","DOI":"10.1358\/dof.2009.034.12.1443434"},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"17160","DOI":"10.1073\/pnas.0508190102","article-title":"Purkinje cell long-term depression is prevented by T-588, a neuroprotective compound that reduces cytosolic calcium release from intracellular stores","volume":"102","author":"Kimura","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/ana.24867","article-title":"Caffeine alleviates progressive motor deficits in a transgenic mouse model of spinocerebellar ataxia","volume":"81","author":"Goncalves","year":"2017","journal-title":"Ann. Neurol."},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1212\/WNL.0b013e3181d31e23","article-title":"Riluzole in cerebellar ataxia: A randomized, double-blind, placebo-controlled pilot trial","volume":"74","author":"Ristori","year":"2010","journal-title":"Neurology"},{"key":"ref_241","doi-asserted-by":"crossref","first-page":"R53","DOI":"10.1093\/hmg\/ddv442","article-title":"Gene suppression strategies for dominantly inherited neurodegenerative diseases: Lessons from Huntington\u2019s disease and spinocerebellar ataxia","volume":"25","author":"Keiser","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_242","doi-asserted-by":"crossref","first-page":"2316.e17","DOI":"10.1016\/j.neurobiolaging.2010.03.014","article-title":"Genome-wide analysis of miRNA expression reveals a potential role for miR-144 in brain aging and spinocerebellar ataxia pathogenesis","volume":"32","author":"Persengiev","year":"2011","journal-title":"Neurobiol. Aging"},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1038\/nm1076","article-title":"RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia","volume":"10","author":"Xia","year":"2004","journal-title":"Nat. Med."},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/nature22044","article-title":"Antisense oligonucleotide therapy for spinocerebellar ataxia type 2","volume":"544","author":"Scoles","year":"2017","journal-title":"Nature"},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/ana.25264","article-title":"Oligonucleotide therapy mitigates disease in spinocerebellar ataxia type 3 mice","volume":"84","author":"McLoughlin","year":"2018","journal-title":"Ann. Neurol."},{"key":"ref_246","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1006\/exnr.1999.7099","article-title":"Cerebellar allografts survive and transiently alleviate ataxia in a transgenic model of spinocerebellar ataxia type-1","volume":"158","author":"Kaemmerer","year":"1999","journal-title":"Exp. Neurol."},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"13126","DOI":"10.1523\/JNEUROSCI.0647-09.2009","article-title":"Grafting neural precursor cells promotes functional recovery in an SCA1 mouse model","volume":"29","author":"Chintawar","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1093\/brain\/awu352","article-title":"Transplantation of cerebellar neural stem cells improves motor coordination and neuropathology in Machado-Joseph disease mice","volume":"138","author":"Mendonca","year":"2015","journal-title":"Brain"},{"key":"ref_249","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/1423-0127-18-54","article-title":"Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells","volume":"18","author":"Chang","year":"2011","journal-title":"J. Biomed. Sci."},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","article-title":"Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors","volume":"126","author":"Takahashi","year":"2006","journal-title":"Cell"},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.cell.2007.11.019","article-title":"Induction of pluripotent stem cells from adult human fibroblasts by defined factors","volume":"131","author":"Takahashi","year":"2007","journal-title":"Cell"},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.scr.2018.03.018","article-title":"Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B","volume":"29","author":"Buijsen","year":"2018","journal-title":"Stem Cell Res."},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1016\/j.celrep.2016.10.026","article-title":"Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs","volume":"17","author":"Ishida","year":"2016","journal-title":"Cell Rep."},{"key":"ref_254","first-page":"456","article-title":"Clinical study of transplantation of neural stem cells in therapy of inherited cerebellar atrophy","volume":"41","author":"Tian","year":"2009","journal-title":"J. Peking Univ. Health Sci."},{"key":"ref_255","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1002\/ana.23612","article-title":"A randomized trial of mesenchymal stem cells in multiple system atrophy","volume":"72","author":"Lee","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_256","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1093\/brain\/awl081","article-title":"Molecular pathogenesis of spinocerebellar ataxias","volume":"129","author":"Duenas","year":"2006","journal-title":"Brain"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/21\/1\/216\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:46:18Z","timestamp":1760190378000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/21\/1\/216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,27]]},"references-count":256,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,1]]}},"alternative-id":["ijms21010216"],"URL":"https:\/\/doi.org\/10.3390\/ijms21010216","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,27]]}}}