{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:26:12Z","timestamp":1791217572847,"version":"4.1.0"},"reference-count":39,"publisher":"Frontiers Media SA","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Front. Cell. Neurosci."],"DOI":"10.3389\/fncel.2015.00036","type":"journal-article","created":{"date-parts":[[2015,2,16]],"date-time":"2015-02-16T14:36:35Z","timestamp":1424097395000},"source":"Crossref","is-referenced-by-count":30,"title":["Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation"],"prefix":"10.3389","volume":"9","author":[{"given":"Paola","family":"Giunti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elide","family":"Mantuano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Frontali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liana","family":"Veneziano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2015,2,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"4413","DOI":"10.1093\/nar\/26.19.4413","article-title":"AT-hook motifs identified in a wide variety of DNA-binding proteins","volume":"26","author":"Aravind","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"B2","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1038\/8070","article-title":"Splicing of alpha 1A subunit gene generates phenotypic variants of P- and Q-type calcium channels","volume":"2","author":"Bourinet","year":"1999","journal-title":"Nat. Neurosci."},{"key":"B3","doi-asserted-by":"publisher","first-page":"144","DOI":"10.4172\/2155-9562.1000144","article-title":"Spinocerebellar Ataxia type 6 (SCA6) phenotype in a patient with an intermediate mutation range CACNA1A allele","volume":"4","author":"Brenman","year":"2013","journal-title":"J. Neurol. Neurophysiol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1146\/annurev.cellbio.16.1.521","article-title":"Structure and regulation of voltage-gated Ca2+ channels","volume":"16","author":"Catterall","year":"2000","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.neulet.2010.08.085","article-title":"Signaling complexes of voltage-gated sodium and calcium channels","volume":"486","author":"Catterall","year":"2010","journal-title":"Neurosci. Lett."},{"key":"B6","doi-asserted-by":"publisher","first-page":"C1078","DOI":"10.1152\/ajpcell.00353.2006","article-title":"Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine-expanded alpha1A in SCA6","volume":"292","author":"Chen","year":"2007","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1016\/j.cell.2013.05.059","article-title":"Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6","volume":"154","author":"Du","year":"2013","journal-title":"Cell"},{"key":"B8","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1085\/jgp.200709786","article-title":"Calcium channels are models of self-control","volume":"129","author":"Dunlap","year":"2007","journal-title":"J. Gen. Physiol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1089","DOI":"10.1098\/rstb.1999.0464","article-title":"CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci","volume":"354","author":"Frontali","year":"1999","journal-title":"Philos. Trans. R. Soc. Lond. B Biol. Sci."},{"key":"B10","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/j.cell.2006.10.017","article-title":"The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor","volume":"127","author":"Gomez-Ospina","year":"2006","journal-title":"Cell"},{"key":"B11","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1086\/318804","article-title":"Complete loss of P\/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2","volume":"68","author":"Guida","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"B12","doi-asserted-by":"publisher","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":"B13","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1007\/s00401-009-0630-0","article-title":"The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells","volume":"119","author":"Ishiguro","year":"2010","journal-title":"Acta Neuropathol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1086\/514867","article-title":"Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1","volume":"61","author":"Ishikawa","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1136\/jnnp.65.4.565","article-title":"Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia","volume":"65","author":"Jen","year":"1998","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1973","DOI":"10.1093\/hmg\/6.11.1973","article-title":"Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p","volume":"6","author":"Jodice","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1002\/mds.20564","article-title":"Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)","volume":"20","author":"Khan","year":"2005","journal-title":"Mov. Disord."},{"key":"B18","doi-asserted-by":"publisher","first-page":"1587","DOI":"10.1093\/hmg\/ddl080","article-title":"C-termini of P\/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity","volume":"15","author":"Kordasiewicz","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1212\/wnl.57.8.1502","article-title":"Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient","volume":"57","author":"Mariotti","year":"2001","journal-title":"Neurology"},{"key":"B20","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1002\/ajmg.10514","article-title":"Difference in disease- free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients","volume":"114","author":"Maruyama","year":"2002","journal-title":"Am. J. Med. Genet."},{"key":"B21","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":"B22","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/s0022-510x(02)00009-6","article-title":"Double-blind crossover study of branched-chain amino acid therapy in patients with spinocerebellar degeneration","volume":"195","author":"Mori","year":"2002","journal-title":"J. Neurol. Sci."},{"key":"B23","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1080\/147342204100032331","article-title":"Pharmacological treatments of cerebellar ataxia","volume":"3","author":"Ogawa","year":"2004","journal-title":"Cerebellum"},{"key":"B24","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/s0022-510x(03)00009-1","article-title":"D-cycloserine for the treatment of ataxia in spinocerebellar degeneration","volume":"210","author":"Ogawa","year":"2003","journal-title":"J. Neurol. Sci."},{"key":"B25","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1086\/302269","article-title":"Protein fate in neurodegenerative proteinopathies: polyglutamine diseases join the (mis)fold","volume":"64","author":"Paulson","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"B26","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/b978-0-444-51892-7.00046-2","article-title":"Treatment and management issues in ataxic diseases","volume":"103","author":"Perlman","year":"2012","journal-title":"Handb. Clin. Neurol."},{"key":"B27","doi-asserted-by":"crossref","first-page":"9185","DOI":"10.1523\/JNEUROSCI.21-23-09185.2001","article-title":"Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6","volume":"21","author":"Piedras-Renter\u00c3\u00ada","year":"2001","journal-title":"J. Neurosci."},{"key":"B28","doi-asserted-by":"crossref","first-page":"6394","DOI":"10.1523\/JNEUROSCI.20-17-06394.2000","article-title":"The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P\/Q-type calcium channels in Xenopus oocytes","volume":"20","author":"Restituito","year":"2000","journal-title":"J. Neurosci."},{"key":"B29","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1016\/S0896-6273(02)00872-3","article-title":"Polyglutamine pathogenesis: emergence of unifying mechanisms for Huntington\u00e2\u20ac\u2122s disease and related disorders","volume":"35","author":"Ross","year":"2002","journal-title":"Neuron"},{"key":"B30","doi-asserted-by":"publisher","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":"B31","doi-asserted-by":"crossref","first-page":"10142","DOI":"10.1523\/JNEUROSCI.22-23-10142.2002","article-title":"Systematic identification of splice variants in human P\/Q-type channel alpha1(2.1) subunits: implications for current density and Ca2+-dependent inactivation","volume":"22","author":"Soong","year":"2002","journal-title":"J. Neurosci."},{"key":"B32","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1007\/s10038-004-0142-7","article-title":"A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6","volume":"49","author":"Takahashi","year":"2004","journal-title":"J. Hum. Genet."},{"key":"B33","doi-asserted-by":"publisher","first-page":"e50121","DOI":"10.1371\/journal.pone.0050121","article-title":"Cytoplasmic location of \u00ce\u00b11A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death","volume":"8","author":"Takahashi","year":"2013","journal-title":"PLoS One"},{"key":"B34","doi-asserted-by":"publisher","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":"B35","doi-asserted-by":"publisher","first-page":"13284","DOI":"10.1073\/pnas.192242399","article-title":"Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons","volume":"99","author":"Tottene","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"B36","doi-asserted-by":"publisher","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. U S A"},{"key":"B37","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/s0022-510x(98)00009-4","article-title":"SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia","volume":"156","author":"Yabe","year":"1998","journal-title":"J. Neurol. Sci."},{"key":"B38","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1034\/j.1600-0404.2001.00299.x","article-title":"Clinical trial of acetazolamide in SCA6, with assessment using the Ataxia Rating Scale and body stabilometry","volume":"104","author":"Yabe","year":"2001","journal-title":"Acta Neurol. Scand."},{"key":"B39","doi-asserted-by":"publisher","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."}],"container-title":["Frontiers in Cellular Neuroscience"],"original-title":[],"deposited":{"date-parts":[[2019,8,20]],"date-time":"2019-08-20T23:35:26Z","timestamp":1566344126000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/Article\/10.3389\/fncel.2015.00036\/abstract"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,16]]},"references-count":39,"URL":"https:\/\/doi.org\/10.3389\/fncel.2015.00036","relation":{},"ISSN":["1662-5102"],"issn-type":[{"value":"1662-5102","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,16]]}}}