{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T19:09:52Z","timestamp":1793819392387,"version":"4.6.1"},"publisher-location":"Cham","reference-count":87,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783319717784","type":"print"},{"value":"9783319717791","type":"electronic"}],"license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018]]},"DOI":"10.1007\/978-3-319-71779-1_9","type":"book-chapter","created":{"date-parts":[[2018,2,9]],"date-time":"2018-02-09T04:51:01Z","timestamp":1518151861000},"page":"197-218","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7"],"prefix":"10.1007","author":[{"given":"Alice","family":"Karam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvon","family":"Trottier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,2,10]]},"reference":[{"key":"9_CR1","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1038\/378403a0","volume":"378","author":"Y Trottier","year":"1995","unstructured":"Trottier Y, Lutz Y, Stevanin G, Imbert G, Devys D, Cancel G, Saudou F, Weber C, David G, Tora L et al (1995) Polyglutamine expansion as a pathological epitope in Huntington\u2019s disease and four dominant cerebellar ataxias. Nature 378:403\u2013406","journal-title":"Nature"},{"key":"9_CR2","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1093\/hmg\/7.2.165","volume":"7","author":"G David","year":"1998","unstructured":"David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A (1998) Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet 7:165\u2013170","journal-title":"Hum Mol Genet"},{"key":"9_CR3","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1007\/s004150170082","volume":"248","author":"BP Warrenburg van de","year":"2001","unstructured":"van de Warrenburg BP, Frenken CW, Ausems MG, Kleefstra T, Sinke RJ, Knoers NV, Kremer HP (2001) Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype. J Neurol 248:911\u2013914","journal-title":"J Neurol"},{"key":"9_CR4","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1038\/sj.ejhg.5201108","volume":"12","author":"A Michalik","year":"2004","unstructured":"Michalik A, Martin JJ, Van Broeckhoven C (2004) Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. Eur J Hum Genet 12:2\u201315","journal-title":"Eur J Hum Genet"},{"key":"9_CR5","doi-asserted-by":"publisher","first-page":"2473","DOI":"10.1093\/hmg\/8.13.2473","volume":"8","author":"DG Monckton","year":"1999","unstructured":"Monckton DG, Cayuela ML, Gould FK, Brock GJ, Silva R, Ashizawa T (1999) Very large (CAG) n DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males. Hum Mol Genet 8:2473\u20132478","journal-title":"Hum Mol Genet"},{"key":"9_CR6","doi-asserted-by":"publisher","first-page":"1594","DOI":"10.1086\/302406","volume":"64","author":"P Giunti","year":"1999","unstructured":"Giunti P, Stevanin G, Worth PF, David G, Brice A, Wood NW (1999) Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation. Am J Hum Genet 64:1594\u20131603","journal-title":"Am J Hum Genet"},{"key":"9_CR7","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1093\/hmg\/7.2.171","volume":"7","author":"J Johansson","year":"1998","unstructured":"Johansson J, Forsgren L, Sandgren O, Brice A, Holmgren G, Holmberg M (1998) Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet 7:171\u2013176","journal-title":"Hum Mol Genet"},{"key":"9_CR8","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1002\/ana.20230","volume":"56","author":"O Ansorge","year":"2004","unstructured":"Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F (2004) Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats. Ann Neurol 56:448\u2013452","journal-title":"Ann Neurol"},{"key":"9_CR9","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1212\/WNL.51.4.1081","volume":"51","author":"CS Benton","year":"1998","unstructured":"Benton CS, de Silva R, Rutledge SL, Bohlega S, Ashizawa T, Zoghbi HY (1998) Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Neurology 51:1081\u20131086","journal-title":"Neurology"},{"issue":"3","key":"9_CR10","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1093\/brain\/117.3.445","volume":"117","author":"TP Enevoldson","year":"1994","unstructured":"Enevoldson TP, Sanders MD, Harding AE (1994) Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families. Brain J Neurol 117(3):445\u2013460","journal-title":"Brain J Neurol"},{"key":"9_CR11","doi-asserted-by":"crossref","unstructured":"Trang H, Stanley SY, Thorner P, Faghfoury H, Schulze A, Hawkins C, Pearson CE, Yoon G (2014) Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7. JAMA Neurol","DOI":"10.1001\/jamaneurol.2014.1902"},{"key":"9_CR12","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1111\/j.1469-8749.2007.00140.x","volume":"49","author":"A Whitney","year":"2007","unstructured":"Whitney A, Lim M, Kanabar D, Lin JP (2007) Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise. Dev Med Child Neurol 49:140\u2013143","journal-title":"Dev Med Child Neurol"},{"key":"9_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.neuroimage.2010.12.014","volume":"55","author":"S Alcauter","year":"2011","unstructured":"Alcauter S, Barrios FA, Diaz R, Fernandez-Ruiz J (2011) Gray and white matter alterations in spinocerebellar ataxia type 7: an in vivo DTI and VBM study. Neuroimage 55:1\u20137","journal-title":"Neuroimage"},{"key":"9_CR14","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1136\/jnnp.2003.029819","volume":"75","author":"OY Bang","year":"2004","unstructured":"Bang OY, Lee PH, Kim SY, Kim HJ, Huh K (2004) Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. J Neurol Neurosurg Psychiatry 75:1452\u20131456","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"9_CR15","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1007\/s12311-012-0412-4","volume":"12","author":"LC Horton","year":"2013","unstructured":"Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL, Schmahmann JD (2013) Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology. Cerebellum 12:176\u2013193","journal-title":"Cerebellum"},{"key":"9_CR16","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/S0022-510X(99)00176-8","volume":"168","author":"J Martin","year":"1999","unstructured":"Martin J, Van Regemorter N, Del-Favero J, Lofgren A, Van Broeckhoven C (1999) Spinocerebellar ataxia type 7 (SCA7)\u2014correlations between phenotype and genotype in one large Belgian family. J Neurol Sci 168:37\u201346","journal-title":"J Neurol Sci"},{"key":"9_CR17","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1111\/j.1365-2990.2007.00882.x","volume":"34","author":"U Rub","year":"2008","unstructured":"Rub U, Brunt ER, Seidel K, Gierga K, Mooy CM, Kettner M, Van Broeckhoven C, Bechmann I, La Spada AR, Schols L, den Dunnen W, de Vos RA, Deller T (2008) Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments. Neuropathol Appl Neurobiol 34:155\u2013168","journal-title":"Neuropathol Appl Neurobiol"},{"key":"9_CR18","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1111\/j.1750-3639.2005.tb00113.x","volume":"15","author":"U Rub","year":"2005","unstructured":"Rub U, Brunt ER, Gierga K, Seidel K, Schultz C, Schols L, Auburger G, Heinsen H, Ippel PF, Glimmerveen WF, Wittebol-Post D, Arai K, Deller T, de Vos RA (2005) Spinocerebellar ataxia type 7 (SCA7): first report of a systematic neuropathological study of the brain of a patient with a very short expanded CAG-repeat. Brain Pathol 15:287\u2013295","journal-title":"Brain Pathol"},{"key":"9_CR19","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1002\/ana.410350411","volume":"35","author":"A Benomar","year":"1994","unstructured":"Benomar A, Leguern E, Durr A, Ouhabi H, Stevanin G, Yahyaoui M, Chkili T, Agid Y, Brice A (1994) Autosomal-dominant cerebellar-ataxia with retinal degeneration (ADCA type-II) is genetically different from ADCA type-I. Ann Neurol 35:439\u2013444","journal-title":"Ann Neurol"},{"key":"9_CR20","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1212\/WNL.44.8.1441","volume":"44","author":"LG Gouw","year":"1994","unstructured":"Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ (1994) Autosomal-dominant cerebellar-ataxia with retinal degeneration\u2014clinical, neuropathologic, and genetic-analysis of a large kindred. Neurology 44:1441\u20131447","journal-title":"Neurology"},{"key":"9_CR21","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1007\/BF00310370","volume":"88","author":"JJ Martin","year":"1994","unstructured":"Martin JJ, Van Regemorter N, Krols L, Brucher JM, de Barsy T, Szliwowski H, Evrard P, Ceuterick C, Tassignon MJ, Smet-Dieleman H et al (1994) On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family. Acta Neuropathol (Berl) 88:277\u2013286","journal-title":"Acta Neuropathol (Berl)"},{"key":"9_CR22","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1006\/exer.2002.1169","volume":"74","author":"TS Aleman","year":"2002","unstructured":"Aleman TS, Cideciyan AV, Volpe NJ, Stevanin G, Brice A, Jacobson SG (2002) Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Exp Eye Res 74:737\u2013745","journal-title":"Exp Eye Res"},{"key":"9_CR23","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1001\/archneur.60.1.97","volume":"60","author":"DD Einum","year":"2003","unstructured":"Einum DD, Clark AM, Townsend JJ, Ptacek LJ, Fu YH (2003) A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. Arch Neurol 60:97\u2013103","journal-title":"Arch Neurol"},{"key":"9_CR24","doi-asserted-by":"publisher","first-page":"1257","DOI":"10.1093\/hmg\/ddh139","volume":"13","author":"D Helmlinger","year":"2004","unstructured":"Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz JM, Mandel JL, Tora L, Devys D (2004) Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet 13:1257\u20131265","journal-title":"Hum Mol Genet"},{"key":"9_CR25","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1186\/1750-1326-8-42","volume":"8","author":"CE Duncan","year":"2013","unstructured":"Duncan CE, An MC, Papanikolaou T, Rugani C, Vitelli C, Ellerby LM (2013) Histone deacetylase-3 interacts with ataxin-7 and is altered in a spinocerebellar ataxia type 7 mouse model. Mol Neurodegener 8:42","journal-title":"Mol Neurodegener"},{"key":"9_CR26","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1093\/hmg\/ddp478","volume":"19","author":"A Janer","year":"2010","unstructured":"Janer A, Werner A, Takahashi-Fujigasaki J, Daret A, Fujigasaki H, Takada K, Duyckaerts C, Brice A, Dejean A, Sittler A (2010) SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. Hum Mol Genet 19:181\u2013195","journal-title":"Hum Mol Genet"},{"issue":"12","key":"9_CR27","doi-asserted-by":"publisher","first-page":"2519","DOI":"10.1093\/brain\/123.12.2519","volume":"123","author":"G Cancel","year":"2000","unstructured":"Cancel G, Duyckaerts C, Holmberg M, Zander C, Yvert G, Lebre AS, Ruberg M, Faucheux B, Agid Y, Hirsch E, Brice A (2000) Distribution of ataxin-7 in normal human brain and retina. Brain J Neurol 123(12):2519\u20132530","journal-title":"Brain J Neurol"},{"key":"9_CR28","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1007\/s100480000100","volume":"3","author":"DD Einum","year":"2001","unstructured":"Einum DD, Townsend JJ, Ptacek LJ, Fu YH (2001) Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients. Neurogenetics 3:83\u201390","journal-title":"Neurogenetics"},{"key":"9_CR29","unstructured":"Einum DD, Gouw L, MAtilla A, Townsend J, Fu YH, Ptacek LJ (1999) Expression analysis of ataxin-7 reveals restricted localization of an alternate isoform. Am J Hum Genet 65:A104\u2013A104"},{"key":"9_CR30","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/s00401-001-0514-4","volume":"104","author":"J Jonasson","year":"2002","unstructured":"Jonasson J, Strom AL, Hart P, Brannstrom T, Forsgren L, Holmberg M (2002) Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals. Acta Neuropathol 104:29\u201337","journal-title":"Acta Neuropathol"},{"key":"9_CR31","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1111\/j.1750-3639.2000.tb00270.x","volume":"10","author":"KS Lindenberg","year":"2000","unstructured":"Lindenberg KS, Yvert G, Muller K, Landwehrmeyer GB (2000) Expression analysis of ataxin-7 mRNA and protein in human brain: evidence for a widespread distribution and focal protein accumulation. Brain Pathol 10:385\u2013394","journal-title":"Brain Pathol"},{"key":"9_CR32","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/S0169-328X(99)00256-9","volume":"74","author":"C Mauger","year":"1999","unstructured":"Mauger C, Del-Favero J, Ceuterick C, Lubke U, van Broeckhoven C, Martin J (1999) Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody. Brain Res Mol Brain Res 74:35\u201343","journal-title":"Brain Res Mol Brain Res"},{"key":"9_CR33","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/S0378-1119(02)00399-2","volume":"285","author":"AL Strom","year":"2002","unstructured":"Strom AL, Jonasson J, Hart P, Brannstrom T, Forsgren L, Holmberg M (2002) Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene. Gene 285:91\u201399","journal-title":"Gene"},{"key":"9_CR34","doi-asserted-by":"publisher","first-page":"8472","DOI":"10.1073\/pnas.0503505102","volume":"102","author":"VB Palhan","year":"2005","unstructured":"Palhan VB, Chen S, Peng GH, Tjernberg A, Gamper AM, Fan Y, Chait BT, La Spada AR, Roeder RG (2005) Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci USA 102:8472\u20138477","journal-title":"Proc Natl Acad Sci USA"},{"key":"9_CR35","doi-asserted-by":"publisher","first-page":"4723","DOI":"10.1128\/MCB.22.13.4723-4738.2002","volume":"22","author":"SL Sanders","year":"2002","unstructured":"Sanders SL, Jennings J, Canutescu A, Link AJ, Weil PA (2002) Proteomics of the eukaryotic transcription machinery: identification of proteins associated with components of yeast TFIID by multidimensional mass spectrometry. Mol Cell Biol 22:4723\u20134738","journal-title":"Mol Cell Biol"},{"key":"9_CR36","doi-asserted-by":"publisher","first-page":"2845","DOI":"10.1093\/hmg\/ddg297","volume":"12","author":"H Scheel","year":"2003","unstructured":"Scheel H, Tomiuk S, Hofmann K (2003) Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics. Hum Mol Genet 12:2845\u20132852","journal-title":"Hum Mol Genet"},{"key":"9_CR37","doi-asserted-by":"crossref","unstructured":"Wyce A, Henry KW, Berger SL (2004) H2B ubiquitylation and de-ubiquitylation in gene activation. Novartis Found Symp 259:63\u201373; discussion 73\u201367, 163\u2013169","DOI":"10.1002\/0470862637.ch5"},{"key":"9_CR38","doi-asserted-by":"publisher","first-page":"1999","DOI":"10.1101\/gad.250225.114","volume":"28","author":"J Bonnet","year":"2014","unstructured":"Bonnet J, Wang CY, Baptista T, Vincent SD, Hsiao WC, Stierle M, Kao CF, Tora L, Devys D (2014) The SAGA coactivator complex acts on the whole transcribed genome and is required for RNA polymerase II transcription. Genes Dev 28:1999\u20132012","journal-title":"Genes Dev"},{"key":"9_CR39","doi-asserted-by":"publisher","first-page":"1099","DOI":"10.1093\/hmg\/ddr539","volume":"21","author":"Y Nakamura","year":"2012","unstructured":"Nakamura Y, Tagawa K, Oka T, Sasabe T, Ito H, Shiwaku H, La Spada AR, Okazawa H (2012) Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. Hum Mol Genet 21:1099\u20131110","journal-title":"Hum Mol Genet"},{"key":"9_CR40","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1093\/hmg\/ddq496","volume":"20","author":"JJ Kahle","year":"2011","unstructured":"Kahle JJ, Gulbahce N, Shaw CA, Lim J, Hill DE, Barabasi AL, Zoghbi HY (2011) Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet 20:510\u2013527","journal-title":"Hum Mol Genet"},{"key":"9_CR41","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1101\/gad.225151.113","volume":"28","author":"RD Mohan","year":"2014","unstructured":"Mohan RD, Dialynas G, Weake VM, Liu J, Martin-Brown S, Florens L, Washburn MP, Workman JL, Abmayr SM (2014) Loss of Drosophila ataxin-7, a SAGA subunit, reduces H2B ubiquitination and leads to neural and retinal degeneration. Genes Dev 28:259\u2013272","journal-title":"Genes Dev"},{"key":"9_CR42","doi-asserted-by":"publisher","first-page":"e50705","DOI":"10.1371\/journal.pone.0050705","volume":"7","author":"C Yanicostas","year":"2012","unstructured":"Yanicostas C, Barbieri E, Hibi M, Brice A, Stevanin G, Soussi-Yanicostas N (2012) Requirement for zebrafish ataxin-7 in differentiation of photoreceptors and cerebellar neurons. PLoS ONE 7:e50705","journal-title":"PLoS ONE"},{"key":"9_CR43","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1146\/annurev.neuro.23.1.217","volume":"23","author":"HY Zoghbi","year":"2000","unstructured":"Zoghbi HY, Orr HT (2000) Glutamine repeats and neurodegeneration. Annu Rev Neurosci 23:217\u2013247","journal-title":"Annu Rev Neurosci"},{"key":"9_CR44","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1016\/S0896-6273(02)01190-X","volume":"37","author":"SY Yoo","year":"2003","unstructured":"Yoo SY, Pennesi ME, Weeber EJ, Xu B, Atkinson R, Chen S, Armstrong DL, Wu SM, Sweatt JD, Zoghbi HY (2003) SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity. Neuron 37:383\u2013401","journal-title":"Neuron"},{"key":"9_CR45","doi-asserted-by":"publisher","first-page":"1679","DOI":"10.1093\/hmg\/10.16.1679","volume":"10","author":"G Yvert","year":"2001","unstructured":"Yvert G, Lindenberg KS, Devys D, Helmlinger D, Landwehrmeyer GB, Mandel JL (2001) SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types. Hum Mol Genet 10:1679\u20131692","journal-title":"Hum Mol Genet"},{"key":"9_CR46","doi-asserted-by":"publisher","first-page":"4897","DOI":"10.1523\/JNEUROSCI.22-12-04897.2002","volume":"22","author":"GA Garden","year":"2002","unstructured":"Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptacek LJ, Sopher BL, La Spada AR (2002) Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. J Neurosci Official J Soc Neurosci 22:4897\u20134905","journal-title":"J Neurosci Official J Soc Neurosci"},{"key":"9_CR47","doi-asserted-by":"publisher","first-page":"2491","DOI":"10.1093\/hmg\/9.17.2491","volume":"9","author":"G Yvert","year":"2000","unstructured":"Yvert G, Lindenberg KS, Picaud S, Landwehrmeyer GB, Sahel JA, Mandel JL (2000) Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. Hum Mol Genet 9:2491\u20132506","journal-title":"Hum Mol Genet"},{"key":"9_CR48","doi-asserted-by":"publisher","first-page":"30150","DOI":"10.1074\/jbc.M705265200","volume":"282","author":"JE Young","year":"2007","unstructured":"Young JE, Gouw L, Propp S, Sopher BL, Taylor J, Lin A, Hermel E, Logvinova A, Chen SF, Chen S, Bredesen DE, Truant R, Ptacek LJ, La Spada AR, Ellerby LM (2007) Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. J Biol Chem 282:30150\u201330160","journal-title":"J Biol Chem"},{"key":"9_CR49","doi-asserted-by":"publisher","first-page":"3908","DOI":"10.1093\/hmg\/ddv121","volume":"24","author":"SJ Guyenet","year":"2015","unstructured":"Guyenet SJ, Mookerjee SS, Lin A, Custer SK, Chen SF, Sopher BL, La Spada AR, Ellerby LM (2015) Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction. Hum Mol Genet 24:3908\u20133917","journal-title":"Hum Mol Genet"},{"key":"9_CR50","doi-asserted-by":"publisher","first-page":"15134","DOI":"10.1523\/JNEUROSCI.4720-09.2009","volume":"29","author":"S Mookerjee","year":"2009","unstructured":"Mookerjee S, Papanikolaou T, Guyenet SJ, Sampath V, Lin A, Vitelli C, DeGiacomo F, Sopher BL, Chen SF, La Spada AR, Ellerby LM (2009) Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment. J Neurosci Official J Soc Neurosci 29:15134\u201315144","journal-title":"J Neurosci Official J Soc Neurosci"},{"key":"9_CR51","doi-asserted-by":"publisher","first-page":"1534","DOI":"10.1093\/brain\/awf154","volume":"125","author":"J Takahashi","year":"2002","unstructured":"Takahashi J, Fujigasaki H, Zander C, El Hachimi KH, Stevanin G, Durr A, Lebre AS, Yvert G, Trottier Y, de The H, Hauw JJ, Duyckaerts C, Brice A (2002) Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content. Brain J Neurol 125:1534\u20131543","journal-title":"Brain J Neurol"},{"key":"9_CR52","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1016\/S0969-9961(03)00080-9","volume":"13","author":"J Takahashi","year":"2003","unstructured":"Takahashi J, Fujigasaki H, Iwabuchi K, Bruni AC, Uchihara T, El Hachimi KH, Stevanin G, Durr A, Lebre AS, Trottier Y, de The H, Tanaka J, Hauw JJ, Duyckaerts C, Brice A (2003) PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases. Neurobiol Dis 13:230\u2013237","journal-title":"Neurobiol Dis"},{"key":"9_CR53","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1083\/jcb.200511045","volume":"174","author":"A Janer","year":"2006","unstructured":"Janer A, Martin E, Muriel MP, Latouche M, Fujigasaki H, Ruberg M, Brice A, Trottier Y, Sittler A (2006) PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins. J Cell Biol 174:65\u201376","journal-title":"J Cell Biol"},{"key":"9_CR54","doi-asserted-by":"crossref","unstructured":"Chort A, Alves S, Marinello M, Dufresnois B, Dornbierer JG, Tesson C, Latouche M, Baker DP, Barkats M, El Hachimi KH, Ruberg M, Janer A, Stevanin G, Brice A, Sittler A (2013) Interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice. Brain J Neurol","DOI":"10.1093\/brain\/awt061"},{"key":"9_CR55","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1093\/hmg\/ddi483","volume":"15","author":"G Abou-Sleymane","year":"2006","unstructured":"Abou-Sleymane G, Chalmel F, Helmlinger D, Lardenois A, Thibault C, Weber C, Merienne K, Mandel JL, Poch O, Devys D, Trottier Y (2006) Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. Hum Mol Genet 15:691\u2013703","journal-title":"Hum Mol Genet"},{"key":"9_CR56","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1016\/j.neuint.2009.11.003","volume":"56","author":"AH Chou","year":"2010","unstructured":"Chou AH, Chen CY, Chen SY, Chen WJ, Chen YL, Weng YS, Wang HL (2010) Polyglutamine-expanded ataxin-7 causes cerebellar dysfunction by inducing transcriptional dysregulation. Neurochem Int 56:329\u2013339","journal-title":"Neurochem Int"},{"issue":"3","key":"9_CR57","doi-asserted-by":"publisher","first-page":"e67","DOI":"10.1371\/journal.pbio.0040067","volume":"4","author":"Dominique Helmlinger","year":"2006","unstructured":"Helmlinger D, Hardy S, Abou-Sleymane G, Eberlin A, Bowman AB, Gansmuller A, Picaud S, Zoghbi HY, Trottier Y, Tora L, Devys D (2006) Polyglutamine-expanded ataxin-7 mediates aberrant recruitment of TFTC-type complexes and chromatin decondensation leading to photoreceptor dysfunction in Spinocerebellar ataxia type 7. PLoS Biol 4:e67","journal-title":"PLoS Biology"},{"key":"9_CR58","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1016\/S0896-6273(01)00422-6","volume":"31","author":"AR Spada La","year":"2001","unstructured":"La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptacek LJ, Chen S (2001) Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron 31:913\u2013927","journal-title":"Neuron"},{"key":"9_CR59","doi-asserted-by":"publisher","first-page":"8478","DOI":"10.1073\/pnas.0503493102","volume":"102","author":"SJ McMahon","year":"2005","unstructured":"McMahon SJ, Pray-Grant MG, Schieltz D, Yates JR 3rd, Grant PA (2005) Polyglutamine-expanded spinocerebellar ataxia-7 protein disrupts normal SAGA and SLIK histone acetyltransferase activity. Proc Natl Acad Sci USA 102:8478\u20138482","journal-title":"Proc Natl Acad Sci USA"},{"key":"9_CR60","doi-asserted-by":"publisher","first-page":"444","DOI":"10.4161\/nucl.2.5.17843","volume":"2","author":"C Kizilyaprak","year":"2011","unstructured":"Kizilyaprak C, Spehner D, Devys D, Schultz P (2011) The linker histone H1C contributes to the SCA7 nuclear phenotype. Nucleus 2:444\u2013454","journal-title":"Nucleus"},{"key":"9_CR61","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1093\/hmg\/ddr474","volume":"21","author":"YC Chen","year":"2012","unstructured":"Chen YC, Gatchel JR, Lewis RW, Mao CA, Grant PA, Zoghbi HY, Dent SY (2012) Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model. Hum Mol Genet 21:394\u2013405","journal-title":"Hum Mol Genet"},{"key":"9_CR62","doi-asserted-by":"publisher","first-page":"21319","DOI":"10.1073\/pnas.1218331110","volume":"109","author":"SD McCullough","year":"2012","unstructured":"McCullough SD, Xu X, Dent SY, Bekiranov S, Roeder RG, Grant PA (2012) Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes. Proc Natl Acad Sci USA 109:21319\u201321324","journal-title":"Proc Natl Acad Sci USA"},{"key":"9_CR63","doi-asserted-by":"publisher","first-page":"21996","DOI":"10.1074\/jbc.M114.631663","volume":"290","author":"H Yang","year":"2015","unstructured":"Yang H, Liu S, He WT, Zhao J, Jiang LL, Hu HY (2015) Aggregation of polyglutamine-expanded ataxin 7 protein specifically sequesters ubiquitin-specific protease 22 and deteriorates its deubiquitinating function in the Spt-Ada-Gcn5-acetyltransferase (SAGA) complex. J Biol Chem 290:21996\u201322004","journal-title":"J Biol Chem"},{"key":"9_CR64","doi-asserted-by":"publisher","first-page":"1777","DOI":"10.1128\/MCB.01454-14","volume":"35","author":"X Lan","year":"2015","unstructured":"Lan X, Koutelou E, Schibler AC, Chen YC, Grant PA, Dent SY (2015) Poly(Q) expansions in ATXN7 affect solubility but not activity of the SAGA deubiquitinating module. Mol Cell Biol 35:1777\u20131787","journal-title":"Mol Cell Biol"},{"key":"9_CR65","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1038\/nsmb.2902","volume":"21","author":"JY Tan","year":"2014","unstructured":"Tan JY, Vance KW, Varela MA, Sirey T, Watson LM, Curtis HJ, Marinello M, Alves S, Steinkraus BR, Cooper S, Nesterova T, Brockdorff N, Fulga TA, Brice A, Sittler A, Oliver PL, Wood MJ, Ponting CP, Marques AC (2014) Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7. Nat Struct Mol Biol 21:955\u2013961","journal-title":"Nat Struct Mol Biol"},{"key":"9_CR66","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1016\/j.nbd.2005.04.018","volume":"20","author":"AL Strom","year":"2005","unstructured":"Strom AL, Forsgren L, Holmberg M (2005) A role for both wild-type and expanded ataxin-7 in transcriptional regulation. Neurobiol Dis 20:646\u2013655","journal-title":"Neurobiol Dis"},{"key":"9_CR67","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1186\/1471-2202-13-86","volume":"13","author":"A Ajayi","year":"2012","unstructured":"Ajayi A, Yu X, Lindberg S, Langel U, Strom AL (2012) Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible spinocerebellar ataxia type 7 (SCA7) model. BMC Neurosci 13:86","journal-title":"BMC Neurosci"},{"key":"9_CR68","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1016\/j.nbd.2010.06.005","volume":"40","author":"MG Yefimova","year":"2010","unstructured":"Yefimova MG, Messaddeq N, Karam A, Jacquard C, Weber C, Jonet L, Wolfrum U, Jeanny JC, Trottier Y (2010) Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in Spinocerebellar ataxia 7 mouse retina. Neurobiol Dis 40:311\u2013324","journal-title":"Neurobiol Dis"},{"key":"9_CR69","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/S0022-510X(96)00187-6","volume":"144","author":"L Forsgren","year":"1996","unstructured":"Forsgren L, Libelius R, Holmberg M, von Dobeln U, Wibom R, Heijbel J, Sandgren O, Holmgren G (1996) Muscle morphology and mitochondrial investigations of a family with autosomal dominant cerebellar ataxia and retinal degeneration mapped to chromosome 3p12\u2013p21.1. J Neurol Sci 144:91\u201398","journal-title":"J Neurol Sci"},{"key":"9_CR70","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1093\/hmg\/ddh005","volume":"13","author":"S Chen","year":"2004","unstructured":"Chen S, Peng GH, Wang X, Smith AC, Grote SK, Sopher BL, La Spada AR (2004) Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization. Hum Mol Genet 13:53\u201367","journal-title":"Hum Mol Genet"},{"key":"9_CR71","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1385\/MN:28:2:139","volume":"28","author":"RE Marc","year":"2003","unstructured":"Marc RE, Jones BW (2003) Retinal remodeling in inherited photoreceptor degenerations. Mol Neurobiol 28:139\u2013147","journal-title":"Mol Neurobiol"},{"key":"9_CR72","doi-asserted-by":"publisher","first-page":"16957","DOI":"10.1074\/jbc.M212049200","volume":"278","author":"K Merienne","year":"2003","unstructured":"Merienne K, Helmlinger D, Perkin GR, Devys D, Trottier Y (2003) Polyglutamine expansion induces a protein-damaging stress connecting heat shock protein 70 to the JNK pathway. J Biol Chem 278:16957\u201316967","journal-title":"J Biol Chem"},{"key":"9_CR73","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1016\/j.nbd.2006.11.002","volume":"25","author":"K Merienne","year":"2007","unstructured":"Merienne K, Friedman J, Akimoto M, Abou-Sleymane G, Weber C, Swaroop A, Trottier Y (2007) Preventing polyglutamine-induced activation of c-Jun delays neuronal dysfunction in a mouse model of SCA7 retinopathy. Neurobiology of disease 25:571\u2013581","journal-title":"Neurobiology of disease"},{"key":"9_CR74","doi-asserted-by":"publisher","first-page":"1302","DOI":"10.1038\/nn1750","volume":"9","author":"SK Custer","year":"2006","unstructured":"Custer SK, Garden GA, Gill N, Rueb U, Libby RT, Schultz C, Guyenet SJ, Deller T, Westrum LE, Sopher BL, La Spada AR (2006) Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport. Nat Neurosci 9:1302\u20131311","journal-title":"Nat Neurosci"},{"key":"9_CR75","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.neures.2012.03.001","volume":"73","author":"S Noma","year":"2012","unstructured":"Noma S, Ohya-Shimada W, Kanai M, Ueda K, Nakamura T, Funakoshi H (2012) Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7. Neurosci Res 73:115\u2013121","journal-title":"Neurosci Res"},{"key":"9_CR76","doi-asserted-by":"publisher","first-page":"16269","DOI":"10.1523\/JNEUROSCI.4000-11.2011","volume":"31","author":"SA Furrer","year":"2011","unstructured":"Furrer SA, Mohanachandran MS, Waldherr SM, Chang C, Damian VA, Sopher BL, Garden GA, La Spada AR (2011) Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous Bergmann glia degeneration. J Neurosci Official J Soc Neurosci 31:16269\u201316278","journal-title":"J Neurosci Official J Soc Neurosci"},{"key":"9_CR77","doi-asserted-by":"publisher","first-page":"1780","DOI":"10.1002\/glia.22722","volume":"62","author":"RF Fern","year":"2014","unstructured":"Fern RF, Matute C, Stys PK (2014) White matter injury: ischemic and nonischemic. Glia 62:1780\u20131789","journal-title":"Glia"},{"key":"9_CR78","doi-asserted-by":"publisher","first-page":"13116","DOI":"10.1074\/jbc.M707697200","volume":"283","author":"SG Lee","year":"2008","unstructured":"Lee SG, Su ZZ, Emdad L, Gupta P, Sarkar D, Borjabad A, Volsky DJ, Fisher PB (2008) Mechanism of ceftriaxone induction of excitatory amino acid transporter-2 expression and glutamate uptake in primary human astrocytes. J Biol Chem 283:13116\u201313123","journal-title":"J Biol Chem"},{"key":"9_CR79","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1172\/JCI74770","volume":"125","author":"F Maltecca","year":"2015","unstructured":"Maltecca F, Baseggio E, Consolato F, Mazza D, Podini P, Young SM Jr, Drago I, Bahr BA, Puliti A, Codazzi F, Quattrini A, Casari G (2015) Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model. J Clin Invest 125:263\u2013274","journal-title":"J Clin Invest"},{"key":"9_CR80","doi-asserted-by":"crossref","unstructured":"Chew LJ, DeBoy CA (2015) Pharmacological approaches to intervention in hypomyelinating and demyelinating white matter pathology. Neuropharmacology","DOI":"10.1016\/j.neuropharm.2015.06.008"},{"key":"9_CR81","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1016\/j.preteyeres.2013.08.001","volume":"37","author":"Y Murakami","year":"2013","unstructured":"Murakami Y, Notomi S, Hisatomi T, Nakazawa T, Ishibashi T, Miller JW, Vavvas DG (2013) Photoreceptor cell death and rescue in retinal detachment and degenerations. Prog Retin Eye Res 37:114\u2013140","journal-title":"Prog Retin Eye Res"},{"key":"9_CR82","doi-asserted-by":"publisher","first-page":"15200","DOI":"10.1073\/pnas.222362099","volume":"99","author":"A Ieraci","year":"2002","unstructured":"Ieraci A, Forni PE, Ponzetto C (2002) Viable hypomorphic signaling mutant of the Met receptor reveals a role for hepatocyte growth factor in postnatal cerebellar development. Proc Natl Acad Sci USA 99:15200\u201315205","journal-title":"Proc Natl Acad Sci USA"},{"key":"9_CR83","doi-asserted-by":"crossref","first-page":"6537","DOI":"10.1523\/JNEUROSCI.22-15-06537.2002","volume":"22","author":"W Sun","year":"2002","unstructured":"Sun W, Funakoshi H, Nakamura T (2002) Overexpression of HGF retards disease progression and prolongs life span in a transgenic mouse model of ALS. J Neurosci Official J Soc Neurosci 22:6537\u20136548","journal-title":"J Neurosci Official J Soc Neurosci"},{"key":"9_CR84","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1093\/hmg\/dds495","volume":"22","author":"SA Furrer","year":"2013","unstructured":"Furrer SA, Waldherr SM, Mohanachandran MS, Baughn TD, Nguyen KT, Sopher BL, Damian VA, Garden GA, La Spada AR (2013) Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7. Hum Mol Genet 22:890\u2013903","journal-title":"Hum Mol Genet"},{"key":"9_CR85","doi-asserted-by":"publisher","first-page":"1635","DOI":"10.1038\/mt.2014.108","volume":"22","author":"PS Ramachandran","year":"2014","unstructured":"Ramachandran PS, Boudreau RL, Schaefer KA, La Spada AR, Davidson BL (2014) Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7. Mol Ther 22:1635\u20131642","journal-title":"Mol Ther"},{"key":"9_CR86","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1111\/j.1399-0004.2006.00680.x","volume":"70","author":"J Greenberg","year":"2006","unstructured":"Greenberg J, Solomon GA, Vorster AA, Heckmann J, Bryer A (2006) Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. Clin Genet 70:415\u2013417","journal-title":"Clin Genet"},{"key":"9_CR87","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.1038\/ejhg.2014.39","volume":"22","author":"J Scholefield","year":"2014","unstructured":"Scholefield J, Watson L, Smith D, Greenberg J, Wood MJ (2014) Allele-specific silencing of mutant Ataxin-7 in SCA7 patient-derived fibroblasts. Eur J Hum Genet 22:1369\u20131375","journal-title":"Eur J Hum Genet"}],"container-title":["Advances in Experimental Medicine and Biology","Polyglutamine Disorders"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-319-71779-1_9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,10]],"date-time":"2019-10-10T13:50:24Z","timestamp":1570715424000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-319-71779-1_9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"ISBN":["9783319717784","9783319717791"],"references-count":87,"URL":"https:\/\/doi.org\/10.1007\/978-3-319-71779-1_9","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}