{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T01:27:13Z","timestamp":1789694833114,"version":"4.0.1"},"publisher-location":"Cham","reference-count":100,"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_4","type":"book-chapter","created":{"date-parts":[[2018,2,9]],"date-time":"2018-02-09T04:51:01Z","timestamp":1518151861000},"page":"85-101","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["RNA Related Pathology in Huntington\u2019s Disease"],"prefix":"10.1007","author":[{"given":"Andreas","family":"Neueder","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gillian P.","family":"Bates","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,2,10]]},"reference":[{"issue":"1","key":"4_CR1","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1176\/jnp.15.1.109","volume":"15","author":"George Huntington","year":"2003","unstructured":"Huntington G (2003) On chorea. George Huntington, M.D. J Neuropsychiatry Clinical Neurosciences 15(1):109\u2013112","journal-title":"The Journal of Neuropsychiatry and Clinical Neurosciences"},{"issue":"5940","key":"4_CR2","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1038\/306234a0","volume":"306","author":"JF Gusella","year":"1983","unstructured":"Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY et al (1983) A polymorphic DNA marker genetically linked to Huntington\u2019s disease. Nature 306(5940):234\u2013238","journal-title":"Nature"},{"issue":"6","key":"4_CR3","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","volume":"72","author":"M MACDONALD","year":"1993","unstructured":"The Huntington\u2019s Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington\u2019s disease chromosomes. Huntington\u2019s Dis Collaborative Res Group. Cell 72(6):971\u2013983","journal-title":"Cell"},{"issue":"12","key":"4_CR4","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1038\/nrn1806","volume":"6","author":"E Cattaneo","year":"2005","unstructured":"Cattaneo E, Zuccato C, Tartari M (2005) Normal huntingtin function: an alternative approach to Huntington\u2019s disease. Nat Rev Neurosci 6(12):919\u2013930","journal-title":"Nat Rev Neurosci"},{"issue":"5334","key":"4_CR5","doi-asserted-by":"publisher","first-page":"1990","DOI":"10.1126\/science.277.5334.1990","volume":"277","author":"M DiFiglia","year":"1997","unstructured":"DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277(5334):1990\u20131993","journal-title":"Science"},{"issue":"4","key":"4_CR6","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1097\/nen.0b013e318040b2c8","volume":"66","author":"G Schilling","year":"2007","unstructured":"Schilling G, Klevytska A, Tebbenkamp AT, Juenemann K, Cooper J, Gonzales V, Slunt H, Poirer M, Ross CA, Borchelt DR (2007) Characterization of huntingtin pathologic fragments in human Huntington disease, transgenic mice, and cell models. J Neuropathol Exp Neurol 66(4):313\u2013320","journal-title":"J Neuropathol Exp Neurol"},{"issue":"2","key":"4_CR7","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/S1097-2765(02)00602-0","volume":"10","author":"A Lunkes","year":"2002","unstructured":"Lunkes A, Lindenberg KS, Ben-Haiem L, Weber C, Devys D, Landwehrmeyer GB, Mandel JL, Trottier Y (2002) Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell 10(2):259\u2013269","journal-title":"Mol Cell"},{"issue":"16","key":"4_CR8","doi-asserted-by":"publisher","first-page":"10855","DOI":"10.1074\/jbc.M804813200","volume":"284","author":"T Ratovitski","year":"2009","unstructured":"Ratovitski T, Gucek M, Jiang H, Chighladze E, Waldron E, D\u2019Ambola J, Hou Z, Liang Y, Poirier MA, Hirschhorn RR, Graham R, Hayden MR, Cole RN, Ross CA (2009) Mutant huntingtin N-terminal fragments of specific size mediate aggregation and toxicity in neuronal cells. J Biol Chem 284(16):10855\u201310867","journal-title":"J Biol Chem"},{"issue":"23","key":"4_CR9","doi-asserted-by":"publisher","first-page":"2970","DOI":"10.4161\/cc.6.23.4992","volume":"6","author":"T Ratovitski","year":"2007","unstructured":"Ratovitski T, Nakamura M, D\u2019Ambola J, Chighladze E, Liang Y, Wang W, Graham R, Hayden MR, Borchelt DR, Hirschhorn RR, Ross CA (2007) N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington\u2019s disease. Cell Cycle 6(23):2970\u20132981","journal-title":"Cell Cycle"},{"issue":"12","key":"4_CR10","doi-asserted-by":"publisher","first-page":"8808","DOI":"10.1074\/jbc.M109.075028","volume":"285","author":"C Landles","year":"2010","unstructured":"Landles C, Sathasivam K, Weiss A, Woodman B, Moffitt H, Finkbeiner S, Sun B, Gafni J, Ellerby LM, Trottier Y, Richards WG, Osmand A, Paganetti P, Bates GP (2010) Proteolysis of mutant huntingtin produces an exon 1 fragment that accumulates as an aggregated protein in neuronal nuclei in Huntington disease. J Biol Chem 285(12):8808\u20138823","journal-title":"J Biol Chem"},{"issue":"4","key":"4_CR11","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1093\/hmg\/ddu504","volume":"24","author":"BA Barbaro","year":"2015","unstructured":"Barbaro BA, Lukacsovich T, Agrawal N, Burke J, Bornemann DJ, Purcell JM, Worthge SA, Caricasole A, Weiss A, Song W, Morozova OA, Colby DW, Marsh JL (2015) Comparative study of naturally occurring huntingtin fragments in Drosophila points to exon 1 as the most pathogenic species in Huntington\u2019s disease. Hum Mol Genet 24(4):913\u2013925","journal-title":"Hum Mol Genet"},{"issue":"6220","key":"4_CR12","doi-asserted-by":"publisher","first-page":"1260419","DOI":"10.1126\/science.1260419","volume":"347","author":"M. Uhlen","year":"2015","unstructured":"Uhlen M, Fagerberg L, Hallstrom BM, Lindskog C, Oksvold P, Mardinoglu A, Sivertsson A, Kampf C, Sjostedt E, Asplund A, Olsson I, Edlund K, Lundberg E, Navani S, Szigyarto CA, Odeberg J, Djureinovic D, Takanen JO, Hober S, Alm T, Edqvist PH, Berling H, Tegel H, Mulder J, Rockberg J, Nilsson P, Schwenk JM, Hamsten M, von Feilitzen K, Forsberg M, Persson L, Johansson F, Zwahlen M, von Heijne G, Nielsen J, Ponten F (2015) Proteomics. Tissue-based map of the human proteome. Science 347(6220):1260419","journal-title":"Science"},{"issue":"3","key":"4_CR13","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/S0092-8674(00)81369-0","volume":"87","author":"L Mangiarini","year":"1996","unstructured":"Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, Bates GP (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87(3):493\u2013506","journal-title":"Cell"},{"issue":"6","key":"4_CR14","doi-asserted-by":"publisher","first-page":"2354","DOI":"10.1073\/pnas.1221292110","volume":"110","author":"CW Ng","year":"2013","unstructured":"Ng CW, Yildirim F, Yap YS, Dalin S, Matthews BJ, Velez PJ, Labadorf A, Housman DE, Fraenkel E (2013) Extensive changes in DNA methylation are associated with expression of mutant huntingtin. Proc Natl Acad Sci U S A 110(6):2354\u20132359","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1\u20132","key":"4_CR15","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/S0169-328X(01)00149-8","volume":"92","author":"C Holzmann","year":"2001","unstructured":"Holzmann C, Schmidt T, Thiel G, Epplen JT, Riess O (2001) Functional characterization of the human Huntington\u2019s disease gene promoter. Brain Res Mol Brain Res 92(1\u20132):85\u201397","journal-title":"Brain Res Mol Brain Res"},{"issue":"5","key":"4_CR16","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1093\/hmg\/7.5.791","volume":"7","author":"R Coles","year":"1998","unstructured":"Coles R, Caswell R, Rubinsztein DC (1998) Functional analysis of the Huntington\u2019s disease (HD) gene promoter. Hum Mol Genet 7(5):791\u2013800","journal-title":"Hum Mol Genet"},{"issue":"6","key":"4_CR17","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1038\/nn.4014","volume":"18","author":"Kristina Be\u010danovi\u0107","year":"2015","unstructured":"Becanovic K, Norremolle A, Neal SJ, Kay C, Collins JA, Arenillas D, Lilja T, Gaudenzi G, Manoharan S, Doty CN, Beck J, Lahiri N, Portales-Casamar E, Warby SC, Connolly C, De Souza RA, Network RIotEHsD, Tabrizi SJ, Hermanson O, Langbehn DR, Hayden MR, Wasserman WW, Leavitt BR (2015) A SNP in the HTT promoter alters NF-kappaB binding and is a bidirectional genetic modifier of Huntington disease. Nat Neurosci 18(6):807\u2013816","journal-title":"Nature Neuroscience"},{"key":"4_CR18","doi-asserted-by":"publisher","first-page":"15005","DOI":"10.1038\/nrdp.2015.5","volume":"1","author":"GP Bates","year":"2015","unstructured":"Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, Wild EJ, Tabrizi SJ (2015) Huntington disease. Nat Rev Dis Primers 1:15005","journal-title":"Nat Rev Dis Primers"},{"issue":"9","key":"4_CR19","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1016\/j.jgg.2014.08.003","volume":"41","author":"R Duan","year":"2014","unstructured":"Duan R, Sharma S, Xia Q, Garber K, Jin P (2014) Towards understanding RNA-mediated neurological disorders. J Genet Genomics = Yi chuan xue bao 41(9):473\u2013484","journal-title":"J Genet Genomics = Yi chuan xue bao"},{"issue":"9","key":"4_CR20","doi-asserted-by":"publisher","first-page":"e1004630","DOI":"10.1371\/journal.pgen.1004630","volume":"10","author":"M Groh","year":"2014","unstructured":"Groh M, Gromak N (2014) Out of balance: R-loops in human disease. PLoS Genet 10(9):e1004630","journal-title":"PLoS Genet"},{"issue":"4","key":"4_CR21","doi-asserted-by":"publisher","first-page":"690","DOI":"10.1016\/j.cell.2011.12.032","volume":"148","author":"CR Liu","year":"2012","unstructured":"Liu CR, Chang CR, Chern Y, Wang TH, Hsieh WC, Shen WC, Chang CY, Chu IC, Deng N, Cohen SN, Cheng TH (2012) Spt4 is selectively required for transcription of extended trinucleotide repeats. Cell 148(4):690\u2013701","journal-title":"Cell"},{"issue":"2\u20133","key":"4_CR22","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.brainresbull.2006.11.004","volume":"72","author":"B Woodman","year":"2007","unstructured":"Woodman B, Butler R, Landles C, Lupton MK, Tse J, Hockly E, Moffitt H, Sathasivam K, Bates GP (2007) The Hdh(Q150\/Q150) knock-in mouse model of HD and the R6\/2 exon 1 model develop comparable and widespread molecular phenotypes. Brain Res Bull 72(2\u20133):83\u201397","journal-title":"Brain Res Bull"},{"issue":"2","key":"4_CR23","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1093\/hmg\/10.2.137","volume":"10","author":"CH Lin","year":"2001","unstructured":"Lin CH, Tallaksen-Greene S, Chien WM, Cearley JA, Jackson WS, Crouse AB, Ren S, Li XJ, Albin RL, Detloff PJ (2001) Neurological abnormalities in a knock-in mouse model of Huntington\u2019s disease. Hum Mol Genet 10(2):137\u2013144","journal-title":"Hum Mol Genet"},{"issue":"6","key":"4_CR24","doi-asserted-by":"publisher","first-page":"2366","DOI":"10.1073\/pnas.1221891110","volume":"110","author":"K Sathasivam","year":"2013","unstructured":"Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP (2013) Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease. Proc Natl Acad Sci U S A 110(6):2366\u20132370","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"20","key":"4_CR25","doi-asserted-by":"publisher","first-page":"8233","DOI":"10.1073\/pnas.1017700108","volume":"108","author":"S Cho","year":"2011","unstructured":"Cho S, Hoang A, Sinha R, Zhong XY, Fu XD, Krainer AR, Ghosh G (2011) Interaction between the RNA binding domains of Ser-Arg splicing factor 1 and U1-70\u00a0K snRNP protein determines early spliceosome assembly. Proc Natl Acad Sci U S A 108(20):8233\u20138238","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"7324","key":"4_CR26","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1038\/nature09479","volume":"468","author":"D Kaida","year":"2010","unstructured":"Kaida D, Berg MG, Younis I, Kasim M, Singh LN, Wan L, Dreyfuss G (2010) U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation. Nature 468(7324):664\u2013668","journal-title":"Nature"},{"issue":"1","key":"4_CR27","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.cell.2012.05.029","volume":"150","author":"MG Berg","year":"2012","unstructured":"Berg MG, Singh LN, Younis I, Liu Q, Pinto AM, Kaida D, Zhang Z, Cho S, Sherrill-Mix S, Wan L, Dreyfuss G (2012) U1 snRNP determines mRNA length and regulates isoform expression. Cell 150(1):53\u201364","journal-title":"Cell"},{"issue":"12","key":"4_CR28","doi-asserted-by":"publisher","first-page":"e49838","DOI":"10.1371\/journal.pone.0049838","volume":"7","author":"LB Menalled","year":"2012","unstructured":"Menalled LB, Kudwa AE, Miller S, Fitzpatrick J, Watson-Johnson J, Keating N, Ruiz M, Mushlin R, Alosio W, McConnell K, Connor D, Murphy C, Oakeshott S, Kwan M, Beltran J, Ghavami A, Brunner D, Park LC, Ramboz S, Howland D (2012) Comprehensive behavioral and molecular characterization of a new knock-in mouse model of Huntington\u2019s disease: zQ175. PLoS ONE 7(12):e49838","journal-title":"PLoS ONE"},{"issue":"1","key":"4_CR29","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1093\/hmg\/8.1.115","volume":"8","author":"VC Wheeler","year":"1999","unstructured":"Wheeler VC, Auerbach W, White JK, Srinidhi J, Auerbach A, Ryan A, Duyao MP, Vrbanac V, Weaver M, Gusella JF, Joyner AL, MacDonald ME (1999) Length-dependent gametic CAG repeat instability in the Huntington\u2019s disease knock-in mouse. Hum Mol Genet 8(1):115\u2013122","journal-title":"Hum Mol Genet"},{"issue":"4","key":"4_CR30","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1038\/ng1297-404","volume":"17","author":"JK White","year":"1997","unstructured":"White JK, Auerbach W, Duyao MP, Vonsattel JP, Gusella JF, Joyner AL, MacDonald ME (1997) Huntingtin is required for neurogenesis and is not impaired by the Huntington\u2019s disease CAG expansion. Nat Genet 17(4):404\u2013410","journal-title":"Nat Genet"},{"issue":"7","key":"4_CR31","doi-asserted-by":"publisher","first-page":"1428","DOI":"10.1016\/j.jmb.2013.12.028","volume":"426","author":"AC Hughes","year":"2014","unstructured":"Hughes AC, Mort M, Elliston L, Thomas RM, Brooks SP, Dunnett SB, Jones L (2014) Identification of novel alternative splicing events in the huntingtin gene and assessment of the functional consequences using structural protein homology modelling. J Mol Biol 426(7):1428\u20131438","journal-title":"J Mol Biol"},{"issue":"2","key":"4_CR32","doi-asserted-by":"publisher","first-page":"161","DOI":"10.3233\/JHD-150151","volume":"4","author":"M Mort","year":"2015","unstructured":"Mort M, Carlisle FA, Waite AJ, Elliston L, Allen ND, Jones L, Hughes AC (2015) Huntingtin exists as multiple splice forms in human brain. J Huntington\u2019s Dis 4(2):161\u2013171","journal-title":"J Huntington\u2019s Dis"},{"issue":"5","key":"4_CR33","doi-asserted-by":"publisher","first-page":"e0127687","DOI":"10.1371\/journal.pone.0127687","volume":"10","author":"A Ruzo","year":"2015","unstructured":"Ruzo A, Ismailoglu I, Popowski M, Haremaki T, Croft GF, Deglincerti A, Brivanlou AH (2015) Discovery of novel isoforms of huntingtin reveals a new hominid-specific exon. PLoS ONE 10(5):e0127687","journal-title":"PLoS ONE"},{"issue":"11","key":"4_CR34","doi-asserted-by":"publisher","first-page":"1647","DOI":"10.4161\/rna.26706","volume":"10","author":"TA Gipson","year":"2013","unstructured":"Gipson TA, Neueder A, Wexler NS, Bates GP, Housman D (2013) Aberrantly spliced HTT, a new player in Huntington\u2019s disease pathogenesis. RNA Biol 10(11):1647\u20131652","journal-title":"RNA Biol"},{"key":"4_CR35","unstructured":"Genetic Modifiers of Huntington\u2019s Disease C (2015) Identification of genetic factors that modify clinical onset of Huntington\u2019s disease. Cell 162(3):516\u2013526"},{"key":"4_CR36","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.nbd.2015.01.004","volume":"76","author":"Eloise Larson","year":"2015","unstructured":"Larson E, Fyfe I, Morton AJ, Monckton DG (2015) Age-, tissue-and length-dependent bidirectional somatic CAG*CTG repeat instability in an allelic series of R6\/2 Huntington disease mice. Neurobiology of disease 76:98\u2013111","journal-title":"Neurobiology of Disease"},{"issue":"11","key":"4_CR37","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1002\/mds.26020","volume":"29","author":"N Aronin","year":"2014","unstructured":"Aronin N, DiFiglia M (2014) Huntingtin-lowering strategies in Huntington\u2019s disease: antisense oligonucleotides, small RNAs, and gene editing. Movement disorders: official journal of the Movement Disorder Society 29(11):1455\u20131461","journal-title":"Movement disorders: official journal of the Movement Disorder Society"},{"issue":"11","key":"4_CR38","doi-asserted-by":"publisher","first-page":"1434","DOI":"10.1002\/mds.26007","volume":"29","author":"EJ Wild","year":"2014","unstructured":"Wild EJ, Tabrizi SJ (2014) Targets for future clinical trials in Huntington\u2019s disease: what\u2019s in the pipeline? Movement Disorders. Official J Mov Disord Soc 29(11):1434\u20131445","journal-title":"Official J Mov Disord Soc"},{"issue":"12","key":"4_CR39","doi-asserted-by":"publisher","first-page":"2178","DOI":"10.1038\/mt.2011.201","volume":"19","author":"JB Carroll","year":"2011","unstructured":"Carroll JB, Warby SC, Southwell AL, Doty CN, Greenlee S, Skotte N, Hung G, Bennett CF, Freier SM, Hayden MR (2011) Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene\/allele-specific silencing of mutant huntingtin. Mol Ther J Am Soc Gene Ther 19(12):2178\u20132185","journal-title":"Mol Ther J Am Soc Gene Ther"},{"issue":"16","key":"4_CR40","doi-asserted-by":"publisher","first-page":"5820","DOI":"10.1073\/pnas.0501507102","volume":"102","author":"SQ Harper","year":"2005","unstructured":"Harper SQ, Staber PD, He X, Eliason SL, Martins IH, Mao Q, Yang L, Kotin RM, Paulson HL, Davidson BL (2005) RNA interference improves motor and neuropathological abnormalities in a Huntington\u2019s disease mouse model. Proc Natl Acad Sci U S A 102(16):5820\u20135825","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5","key":"4_CR41","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1089\/hum.2013.200","volume":"25","author":"LM Stanek","year":"2014","unstructured":"Stanek LM, Sardi SP, Mastis B, Richards AR, Treleaven CM, Taksir T, Misra K, Cheng SH, Shihabuddin LS (2014) Silencing mutant huntingtin by adeno-associated virus-mediated RNA interference ameliorates disease manifestations in the YAC128 mouse model of Huntington\u2019s disease. Hum Gene Ther 25(5):461\u2013474","journal-title":"Hum Gene Ther"},{"issue":"Pt 3","key":"4_CR42","doi-asserted-by":"publisher","first-page":"819","DOI":"10.1093\/brain\/awt355","volume":"137","author":"U Trager","year":"2014","unstructured":"Trager U, Andre R, Lahiri N, Magnusson-Lind A, Weiss A, Grueninger S, McKinnon C, Sirinathsinghji E, Kahlon S, Pfister EL, Moser R, Hummerich H, Antoniou M, Bates GP, Luthi-Carter R, Lowdell MW, Bjorkqvist M, Ostroff GR, Aronin N, Tabrizi SJ (2014) HTT-lowering reverses Huntington\u2019s disease immune dysfunction caused by NFkappaB pathway dysregulation. Brain J Neurol 137(Pt 3):819\u2013833","journal-title":"Brain J Neurol"},{"issue":"6","key":"4_CR43","doi-asserted-by":"publisher","first-page":"1031","DOI":"10.1016\/j.neuron.2012.05.009","volume":"74","author":"HB Kordasiewicz","year":"2012","unstructured":"Kordasiewicz HB, Stanek LM, Wancewicz EV, Mazur C, McAlonis MM, Pytel KA, Artates JW, Weiss A, Cheng SH, Shihabuddin LS, Hung G, Bennett CF, Cleveland DW (2012) Sustained therapeutic reversal of Huntington\u2019s disease by transient repression of huntingtin synthesis. Neuron 74(6):1031\u20131044","journal-title":"Neuron"},{"issue":"12","key":"4_CR44","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1038\/nrg3594","volume":"14","author":"V Pelechano","year":"2013","unstructured":"Pelechano V, Steinmetz LM (2013) Gene regulation by antisense transcription. Nat Rev Genet 14(12):880\u2013893","journal-title":"Nat Rev Genet"},{"issue":"17","key":"4_CR45","doi-asserted-by":"publisher","first-page":"3467","DOI":"10.1093\/hmg\/ddr263","volume":"20","author":"DW Chung","year":"2011","unstructured":"Chung DW, Rudnicki DD, Yu L, Margolis RL (2011) A natural antisense transcript at the Huntington\u2019s disease repeat locus regulates HTT expression. Hum Mol Genet 20(17):3467\u20133477","journal-title":"Hum Mol Genet"},{"issue":"5364","key":"4_CR46","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1126\/science.280.5364.737","volume":"280","author":"AV Philips","year":"1998","unstructured":"Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280(5364):737\u2013741","journal-title":"Science"},{"issue":"5652","key":"4_CR47","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1126\/science.1088583","volume":"302","author":"RN Kanadia","year":"2003","unstructured":"Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, Swanson MS (2003) A muscleblind knockout model for myotonic dystrophy. Science 302(5652):1978\u20131980","journal-title":"Science"},{"issue":"17","key":"4_CR48","doi-asserted-by":"publisher","first-page":"4439","DOI":"10.1093\/emboj\/19.17.4439","volume":"19","author":"JW Miller","year":"2000","unstructured":"Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS (2000) Recruitment of human muscle blind proteins to (CUG)(n) expansions associated with myotonic dystrophy. The EMBO journal 19(17):4439\u20134448","journal-title":"The EMBO journal"},{"issue":"11","key":"4_CR49","doi-asserted-by":"publisher","first-page":"e48825","DOI":"10.1371\/journal.pone.0048825","volume":"7","author":"SP Jog","year":"2012","unstructured":"Jog SP, Paul S, Dansithong W, Tring S, Comai L, Reddy S (2012) RNA splicing is responsive to MBNL1 dose. PLoS ONE 7(11):e48825","journal-title":"PLoS ONE"},{"issue":"1","key":"4_CR50","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1002\/wrna.1201","volume":"5","author":"X Li","year":"2014","unstructured":"Li X, Kazan H, Lipshitz HD, Morris QD (2014) Finding the target sites of RNA-binding proteins. Wiley Interdisciplinary Rev RNA 5(1):111\u2013130","journal-title":"Wiley Interdisciplinary Rev RNA"},{"issue":"9","key":"4_CR51","doi-asserted-by":"publisher","first-page":"3852","DOI":"10.1093\/nar\/gkq1323","volume":"39","author":"M Mezer de","year":"2011","unstructured":"de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ (2011) Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference. Nucleic Acids Res 39(9):3852\u20133863","journal-title":"Nucleic Acids Res"},{"issue":"16","key":"4_CR52","doi-asserted-by":"publisher","first-page":"5474","DOI":"10.1093\/nar\/gkm601","volume":"35","author":"Y Yuan","year":"2007","unstructured":"Yuan Y, Compton SA, Sobczak K, Stenberg MG, Thornton CA, Griffith JD, Swanson MS (2007) Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucleic Acids Res 35(16):5474\u20135486","journal-title":"Nucleic Acids Res"},{"issue":"20","key":"4_CR53","doi-asserted-by":"publisher","first-page":"8938","DOI":"10.1093\/nar\/gkr608","volume":"39","author":"A Mykowska","year":"2011","unstructured":"Mykowska A, Sobczak K, Wojciechowska M, Kozlowski P, Krzyzosiak WJ (2011) CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucleic Acids Res 39(20):8938\u20138951","journal-title":"Nucleic Acids Res"},{"key":"4_CR54","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/s12920-014-0060-2","volume":"7","author":"A Neueder","year":"2014","unstructured":"Neueder A, Bates GP (2014) A common gene expression signature in Huntington\u2019s disease patient brain regions. BMC Med Genomics 7:60","journal-title":"BMC Med Genomics"},{"key":"4_CR55","doi-asserted-by":"publisher","first-page":"12521","DOI":"10.1038\/srep12521","volume":"5","author":"X Sun","year":"2015","unstructured":"Sun X, Li PP, Zhu S, Cohen R, Marque LO, Ross CA, Pulst SM, Chan HY, Margolis RL, Rudnicki DD (2015) Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65. Scientific reports 5:12521","journal-title":"Scientific reports"},{"key":"4_CR56","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1146\/annurev-biophys-083012-130404","volume":"42","author":"RC Wilson","year":"2013","unstructured":"Wilson RC, Doudna JA (2013) Molecular mechanisms of RNA interference. Annual Rev Biophysics 42:217\u2013239","journal-title":"Annual Rev Biophysics"},{"issue":"4","key":"4_CR57","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1016\/j.molcel.2007.01.031","volume":"25","author":"J Krol","year":"2007","unstructured":"Krol J, Fiszer A, Mykowska A, Sobczak K, de Mezer M, Krzyzosiak WJ (2007) Ribonuclease dicer cleaves triplet repeat hairpins into shorter repeats that silence specific targets. Mol Cell 25(4):575\u2013586","journal-title":"Mol Cell"},{"issue":"2","key":"4_CR58","doi-asserted-by":"publisher","first-page":"e1002481","DOI":"10.1371\/journal.pgen.1002481","volume":"8","author":"M Banez-Coronel","year":"2012","unstructured":"Banez-Coronel M, Porta S, Kagerbauer B, Mateu-Huertas E, Pantano L, Ferrer I, Guzman M, Estivill X, Marti E (2012) A pathogenic mechanism in Huntington\u2019s disease involves small CAG-repeated RNAs with neurotoxic activity. PLoS Genet 8(2):e1002481","journal-title":"PLoS Genet"},{"issue":"1","key":"4_CR59","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1007\/s12035-014-8715-8","volume":"51","author":"LM Valor","year":"2015","unstructured":"Valor LM (2015) Transcription, epigenetics and ameliorative strategies in Huntington\u2019s disease: a genome-wide perspective. Mol Neurobiol 51(1):406\u2013423","journal-title":"Mol Neurobiol"},{"issue":"42","key":"4_CR60","doi-asserted-by":"publisher","first-page":"10720","DOI":"10.1523\/JNEUROSCI.2126-08.2008","volume":"28","author":"CL Benn","year":"2008","unstructured":"Benn CL, Sun T, Sadri-Vakili G, McFarland KN, DiRocco DP, Yohrling GJ, Clark TW, Bouzou B, Cha JH (2008) Huntingtin modulates transcription, occupies gene promoters in vivo, and binds directly to DNA in a polyglutamine-dependent manner. J Neurosci 28(42):10720\u201310733","journal-title":"J Neurosci"},{"issue":"36","key":"4_CR61","doi-asserted-by":"publisher","first-page":"30497","DOI":"10.1074\/jbc.M112.355412","volume":"287","author":"X Yin","year":"2012","unstructured":"Yin X, Jin N, Gu J, Shi J, Zhou J, Gong CX, Iqbal K, Grundke-Iqbal I, Liu F (2012) Dual-specificity tyrosine phosphorylation-regulated kinase 1A (Dyrk1A) modulates serine\/arginine-rich protein 55 (SRp55)-promoted Tau exon 10 inclusion. J Biol Chem 287(36):30497\u201330506","journal-title":"J Biol Chem"},{"issue":"2","key":"4_CR62","doi-asserted-by":"publisher","first-page":"21","DOI":"10.3390\/biom6020021","volume":"6","author":"Miguel Medina","year":"2016","unstructured":"Medina M, Hernandez F, Avila J (2016) New Features about Tau Function and Dysfunction. Biomolecules 6(2)","journal-title":"Biomolecules"},{"issue":"2","key":"4_CR63","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1007\/s12264-013-1411-2","volume":"30","author":"W Qian","year":"2014","unstructured":"Qian W, Liu F (2014) Regulation of alternative splicing of tau exon 10. Neuroscience Bulletin 30(2):367\u2013377","journal-title":"Neuroscience Bulletin"},{"issue":"8","key":"4_CR64","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1038\/nm.3617","volume":"20","author":"M Fernandez-Nogales","year":"2014","unstructured":"Fernandez-Nogales M, Cabrera JR, Santos-Galindo M, Hoozemans JJ, Ferrer I, Rozemuller AJ, Hernandez F, Avila J, Lucas JJ (2014) Huntington\u2019s disease is a four-repeat tauopathy with tau nuclear rods. Nat Med 20(8):881\u2013885","journal-title":"Nat Med"},{"issue":"1","key":"4_CR65","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1093\/hmg\/ddu421","volume":"24","author":"D Blum","year":"2015","unstructured":"Blum D, Herrera F, Francelle L, Mendes T, Basquin M, Obriot H, Demeyer D, Sergeant N, Gerhardt E, Brouillet E, Buee L, Outeiro TF (2015) Mutant huntingtin alters Tau phosphorylation and subcellular distribution. Hum Mol Genet 24(1):76\u201385","journal-title":"Hum Mol Genet"},{"issue":"7","key":"4_CR66","doi-asserted-by":"publisher","first-page":"1907","DOI":"10.1093\/brain\/awv107","volume":"138","author":"Romina Vuono","year":"2015","unstructured":"Vuono R, Winder-Rhodes S, de Silva R, Cisbani G, Drouin-Ouellet J, Network RIotEHsD, Spillantini MG, Cicchetti F, Barker RA (2015) The role of tau in the pathological process and clinical expression of Huntington\u2019s disease. Brain J Neurol 138(Pt 7):1907\u20131918","journal-title":"Brain"},{"key":"4_CR67","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw187","author":"L Lin","year":"2016","unstructured":"Lin L, Park JW, Ramachandran S, Zhang Y, Tseng YT, Shen S, Waldvogel HJ, Curtis MA, Faull RL, Troncoso JC, Ross CA, Davidson BL, Xing Y (2016) Transcriptome sequencing reveals aberrant alternative splicing in Huntington\u2019s disease. Hum Mol Genet","journal-title":"Hum Mol Genet"},{"issue":"6","key":"4_CR68","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1097\/00005072-198511000-00003","volume":"44","author":"JP Vonsattel","year":"1985","unstructured":"Vonsattel JP, Myers RH, Stevens TJ, Ferrante RJ, Bird ED, Richardson EP Jr (1985) Neuropathological classification of Huntington\u2019s disease. J Neuropathol Exp Neurol 44(6):559\u2013577","journal-title":"J Neuropathol Exp Neurol"},{"issue":"26","key":"4_CR69","doi-asserted-by":"publisher","first-page":"6972","DOI":"10.1523\/JNEUROSCI.4278-06.2007","volume":"27","author":"C Zuccato","year":"2007","unstructured":"Zuccato C, Belyaev N, Conforti P, Ooi L, Tartari M, Papadimou E, MacDonald M, Fossale E, Zeitlin S, Buckley N, Cattaneo E (2007) Widespread disruption of repressor element-1 silencing transcription factor\/neuron-restrictive silencer factor occupancy at its target genes in Huntington\u2019s disease. J Neurosci 27(26):6972\u20136983","journal-title":"J Neurosci"},{"issue":"1","key":"4_CR70","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1038\/ng1219","volume":"35","author":"C Zuccato","year":"2003","unstructured":"Zuccato C, Tartari M, Crotti A, Goffredo D, Valenza M, Conti L, Cataudella T, Leavitt BR, Hayden MR, Timmusk T, Rigamonti D, Cattaneo E (2003) Huntingtin interacts with REST\/NRSF to modulate the transcription of NRSE-controlled neuronal genes. Nat Genet 35(1):76\u201383","journal-title":"Nat Genet"},{"issue":"7","key":"4_CR71","doi-asserted-by":"publisher","first-page":"899","DOI":"10.1111\/nan.12137","volume":"40","author":"D Schiffer","year":"2014","unstructured":"Schiffer D, Caldera V, Mellai M, Conforti P, Cattaneo E, Zuccato C (2014) Repressor element-1 silencing transcription factor (REST) is present in human control and Huntington\u2019s disease neurones. Neuropathol Appl Neurobiol 40(7):899\u2013910","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"50","key":"4_CR72","doi-asserted-by":"publisher","first-page":"34880","DOI":"10.1074\/jbc.M804183200","volume":"283","author":"M Shimojo","year":"2008","unstructured":"Shimojo M (2008) Huntingtin regulates RE1-silencing transcription factor\/neuron-restrictive silencer factor (REST\/NRSF) nuclear trafficking indirectly through a complex with REST\/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued. J Biol Chem 283(50):34880\u201334886","journal-title":"J Biol Chem"},{"issue":"3","key":"4_CR73","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1111\/jnc.12090","volume":"124","author":"C Soldati","year":"2013","unstructured":"Soldati C, Bithell A, Johnston C, Wong KY, Stanton LW, Buckley NJ (2013) Dysregulation of REST-regulated coding and non-coding RNAs in a cellular model of Huntington\u2019s disease. J Neurochem 124(3):418\u2013430","journal-title":"J Neurochem"},{"issue":"5529","key":"4_CR74","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1126\/science.1059581","volume":"293","author":"C Zuccato","year":"2001","unstructured":"Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, MacDonald ME, Friedlander RM, Silani V, Hayden MR, Timmusk T, Sipione S, Cattaneo E (2001) Loss of huntingtin-mediated BDNF gene transcription in Huntington\u2019s disease. Science 293(5529):493\u2013498","journal-title":"Science"},{"issue":"2","key":"4_CR75","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1111\/j.1471-4159.2007.05137.x","volume":"105","author":"K Gharami","year":"2008","unstructured":"Gharami K, Xie Y, An JJ, Tonegawa S, Xu B (2008) Brain-derived neurotrophic factor over-expression in the forebrain ameliorates Huntington\u2019s disease phenotypes in mice. J Neurochem 105(2):369\u2013379","journal-title":"J Neurochem"},{"issue":"44","key":"4_CR76","doi-asserted-by":"publisher","first-page":"14708","DOI":"10.1523\/JNEUROSCI.1637-10.2010","volume":"30","author":"Y Xie","year":"2010","unstructured":"Xie Y, Hayden MR, Xu B (2010) BDNF overexpression in the forebrain rescues Huntington\u2019s disease phenotypes in YAC128 mice. J Neurosci 30(44):14708\u201314718","journal-title":"J Neurosci"},{"issue":"6","key":"4_CR77","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1038\/gt.2012.84","volume":"20","author":"P Conforti","year":"2013","unstructured":"Conforti P, Mas Monteys A, Zuccato C, Buckley NJ, Davidson B, Cattaneo E (2013) In vivo delivery of DN:REST improves transcriptional changes of REST-regulated genes in HD mice. Gene Ther 20(6):678\u2013685","journal-title":"Gene Ther"},{"issue":"3","key":"4_CR78","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1111\/j.1471-4159.2010.07122.x","volume":"116","author":"C Soldati","year":"2011","unstructured":"Soldati C, Bithell A, Conforti P, Cattaneo E, Buckley NJ (2011) Rescue of gene expression by modified REST decoy oligonucleotides in a cellular model of Huntington\u2019s disease. J Neurochem 116(3):415\u2013425","journal-title":"J Neurochem"},{"issue":"3","key":"4_CR79","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1016\/j.nbd.2007.11.001","volume":"29","author":"R Johnson","year":"2008","unstructured":"Johnson R, Zuccato C, Belyaev ND, Guest DJ, Cattaneo E, Buckley NJ (2008) A microRNA-based gene dysregulation pathway in Huntington\u2019s disease. Neurobiology Dis 29(3):438\u2013445","journal-title":"Neurobiology Dis"},{"issue":"53","key":"4_CR80","doi-asserted-by":"publisher","first-page":"14341","DOI":"10.1523\/JNEUROSCI.2390-08.2008","volume":"28","author":"AN Packer","year":"2008","unstructured":"Packer AN, Xing Y, Harper SQ, Jones L, Davidson BL (2008) The bifunctional microRNA miR-9\/miR-9* regulates REST and CoREST and is downregulated in Huntington\u2019s disease. J Neurosci 28(53):14341\u201314346","journal-title":"J Neurosci"},{"key":"4_CR81","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1007\/978-3-319-22671-2_6","volume":"888","author":"L Qiu","year":"2015","unstructured":"Qiu L, Tan EK, Zeng L (2015) microRNAs and Neurodegenerative Diseases. Adv Exp Med Biol 888:85\u2013105","journal-title":"Adv Exp Med Biol"},{"issue":"28","key":"4_CR82","doi-asserted-by":"publisher","first-page":"11650","DOI":"10.1073\/pnas.1017576108","volume":"108","author":"JE Cohen","year":"2011","unstructured":"Cohen JE, Lee PR, Chen S, Li W, Fields RD (2011) MicroRNA regulation of homeostatic synaptic plasticity. Proc Natl Acad Sci U S A 108(28):11650\u201311655","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"1","key":"4_CR83","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/j.expneurol.2010.10.012","volume":"227","author":"ST Lee","year":"2011","unstructured":"Lee ST, Chu K, Im WS, Yoon HJ, Im JY, Park JE, Park KH, Jung KH, Lee SK, Kim M, Roh JK (2011) Altered microRNA regulation in Huntington\u2019s disease models. Exp Neurol 227(1):172\u2013179","journal-title":"Exp Neurol"},{"key":"4_CR84","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1186\/1756-6606-7-46","volume":"7","author":"J Kocerha","year":"2014","unstructured":"Kocerha J, Xu Y, Prucha MS, Zhao D, Chan AW (2014) microRNA-128a dysregulation in transgenic Huntington\u2019s disease monkeys. Molecular brain 7:46","journal-title":"Molecular brain"},{"issue":"2","key":"4_CR85","doi-asserted-by":"publisher","first-page":"e1004188","DOI":"10.1371\/journal.pgen.1004188","volume":"10","author":"AG Hoss","year":"2014","unstructured":"Hoss AG, Kartha VK, Dong X, Latourelle JC, Dumitriu A, Hadzi TC, Macdonald ME, Gusella JF, Akbarian S, Chen JF, Weng Z, Myers RH (2014) MicroRNAs located in the Hox gene clusters are implicated in huntington\u2019s disease pathogenesis. PLoS Genet 10(2):e1004188","journal-title":"PLoS Genet"},{"key":"4_CR86","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/s12920-015-0083-3","volume":"8","author":"AG Hoss","year":"2015","unstructured":"Hoss AG, Labadorf A, Latourelle JC, Kartha VK, Hadzi TC, Gusella JF, MacDonald ME, Chen JF, Akbarian S, Weng Z, Vonsattel JP, Myers RH (2015) miR-10b-5p expression in Huntington\u2019s disease brain relates to age of onset and the extent of striatal involvement. BMC Med Genomics 8:10","journal-title":"BMC Med Genomics"},{"issue":"20","key":"4_CR87","doi-asserted-by":"publisher","first-page":"7219","DOI":"10.1093\/nar\/gkq575","volume":"38","author":"E Marti","year":"2010","unstructured":"Marti E, Pantano L, Banez-Coronel M, Llorens F, Minones-Moyano E, Porta S, Sumoy L, Ferrer I, Estivill X (2010) A myriad of miRNA variants in control and Huntington\u2019s disease brain regions detected by massively parallel sequencing. Nucleic Acids Res 38(20):7219\u20137235","journal-title":"Nucleic Acids Res"},{"issue":"11","key":"4_CR88","doi-asserted-by":"publisher","first-page":"2225","DOI":"10.1093\/hmg\/ddr111","volume":"20","author":"PM Gaughwin","year":"2011","unstructured":"Gaughwin PM, Ciesla M, Lahiri N, Tabrizi SJ, Brundin P, Bjorkqvist M (2011) Hsa-miR-34b is a plasma-stable microRNA that is elevated in pre-manifest Huntington\u2019s disease. Hum Mol Genet 20(11):2225\u20132237","journal-title":"Hum Mol Genet"},{"issue":"10","key":"4_CR89","doi-asserted-by":"publisher","first-page":"1349","DOI":"10.1038\/ejhg.2014.281","volume":"23","author":"Anastasios Mastrokolias","year":"2015","unstructured":"Mastrokolias A, Ariyurek Y, Goeman JJ, van Duijn E, Roos RA, van der Mast RC, van Ommen GB, den Dunnen JT, t Hoen PA, van Roon-Mom WM (2015) Huntington\u2019s disease biomarker progression profile identified by transcriptome sequencing in peripheral blood. European J Human Genet EJHG 23(10):1349\u20131356","journal-title":"European Journal of Human Genetics"},{"issue":"8","key":"4_CR90","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/j.jgg.2016.06.002","volume":"43","author":"Azali Azlan","year":"2016","unstructured":"Azlan A, Dzaki N, Azzam G (2016) Argonaute: the executor of small RNA function. J Genet Genomics\u00a0=\u00a0Yi chuan xue bao","journal-title":"Journal of Genetics and Genomics"},{"issue":"31","key":"4_CR91","doi-asserted-by":"publisher","first-page":"10820","DOI":"10.1073\/pnas.0800658105","volume":"105","author":"JN Savas","year":"2008","unstructured":"Savas JN, Makusky A, Ottosen S, Baillat D, Then F, Krainc D, Shiekhattar R, Markey SP, Tanese N (2008) Huntington\u2019s disease protein contributes to RNA-mediated gene silencing through association with Argonaute and P bodies. Proc Natl Acad Sci U S A 105(31):10820\u201310825","journal-title":"Proc Natl Acad Sci U S A"},{"key":"4_CR92","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1007\/978-1-4614-5107-5_3","volume":"768","author":"S Jain","year":"2013","unstructured":"Jain S, Parker R (2013) The discovery and analysis of P Bodies. Adv Exp Med Biol 768:23\u201343","journal-title":"Adv Exp Med Biol"},{"key":"4_CR93","doi-asserted-by":"publisher","first-page":"1511","DOI":"10.1038\/ncomms2514","volume":"4","author":"S Krauss","year":"2013","unstructured":"Krauss S, Griesche N, Jastrzebska E, Chen C, Rutschow D, Achmuller C, Dorn S, Boesch SM, Lalowski M, Wanker E, Schneider R, Schweiger S (2013) Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex. Nature communications 4:1511","journal-title":"Nature communications"},{"key":"4_CR94","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/j.gde.2014.03.002","volume":"26","author":"JD Cleary","year":"2014","unstructured":"Cleary JD, Ranum LP (2014) Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders. Curr Opin Genet Dev 26:6\u201315","journal-title":"Curr Opin Genet Dev"},{"issue":"1","key":"4_CR95","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1073\/pnas.1013343108","volume":"108","author":"T Zu","year":"2011","unstructured":"Zu T, Gibbens B, Doty NS, Gomes-Pereira M, Huguet A, Stone MD, Margolis J, Peterson M, Markowski TW, Ingram MA, Nan Z, Forster C, Low WC, Schoser B, Somia NV, Clark HB, Schmechel S, Bitterman PB, Gourdon G, Swanson MS, Moseley M, Ranum LP (2011) Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A 108(1):260\u2013265","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"4","key":"4_CR96","doi-asserted-by":"publisher","first-page":"667","DOI":"10.1016\/j.neuron.2015.10.038","volume":"88","author":"M Banez-Coronel","year":"2015","unstructured":"Banez-Coronel M, Ayhan F, Tarabochia AD, Zu T, Perez BA, Tusi SK, Pletnikova O, Borchelt DR, Ross CA, Margolis RL, Yachnis AT, Troncoso JC, Ranum LP (2015) RAN translation in Huntington disease. Neuron 88(4):667\u2013677","journal-title":"Neuron"},{"issue":"3","key":"4_CR97","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1093\/hmg\/8.3.397","volume":"8","author":"G Schilling","year":"1999","unstructured":"Schilling G, Becher MW, Sharp AH, Jinnah HA, Duan K, Kotzuk JA, Slunt HH, Ratovitski T, Cooper JK, Jenkins NA, Copeland NG, Price DL, Ross CA, Borchelt DR (1999) Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin. Hum Mol Genet 8(3):397\u2013407","journal-title":"Hum Mol Genet"},{"key":"4_CR98","doi-asserted-by":"publisher","first-page":"57","DOI":"10.3389\/fnmol.2013.00057","volume":"6","author":"ML Caillet-Boudin","year":"2014","unstructured":"Caillet-Boudin ML, Fernandez-Gomez FJ, Tran H, Dhaenens CM, Buee L, Sergeant N (2014) Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy. Frontiers in molecular neuroscience 6:57","journal-title":"Frontiers in molecular neuroscience"},{"issue":"2","key":"4_CR99","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","volume":"72","author":"M DeJesus-Hernandez","year":"2011","unstructured":"DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72(2):245\u2013256","journal-title":"Neuron"},{"issue":"2","key":"4_CR100","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","volume":"72","author":"Alan\u00a0E. Renton","year":"2011","unstructured":"Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Consortium I, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72(2):257\u2013268","journal-title":"Neuron"}],"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_4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,4,9]],"date-time":"2018-04-09T23:28:18Z","timestamp":1523316498000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-319-71779-1_4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"ISBN":["9783319717784","9783319717791"],"references-count":100,"URL":"https:\/\/doi.org\/10.1007\/978-3-319-71779-1_4","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}