{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T09:23:20Z","timestamp":1769419400046,"version":"3.49.0"},"reference-count":226,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T00:00:00Z","timestamp":1606435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["POCI-01-0145-FEDER-029255"],"award-info":[{"award-number":["POCI-01-0145-FEDER-029255"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001871","name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia","doi-asserted-by":"publisher","award":["POCI-01-0145-FEDER-029255"],"award-info":[{"award-number":["POCI-01-0145-FEDER-029255"]}],"id":[{"id":"10.13039\/501100001871","id-type":"DOI","asserted-by":"publisher"}]},{"name":"COMPETE 2020 Operational Program for Competitiveness and Internationalization","award":["POCI-01-0145-FEDER-029255"],"award-info":[{"award-number":["POCI-01-0145-FEDER-029255"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Unstable repeat expansions and insertions cause more than 30 neurodegenerative and neuromuscular diseases. Remarkably, bidirectional transcription of repeat expansions has been identified in at least 14 of these diseases. More remarkably, a growing number of studies has been showing that both sense and antisense repeat RNAs are able to dysregulate important cellular pathways, contributing together to the observed clinical phenotype. Notably, antisense repeat RNAs from spinocerebellar ataxia type 7, myotonic dystrophy type 1, Huntington\u2019s disease and frontotemporal dementia\/amyotrophic lateral sclerosis associated genes have been implicated in transcriptional regulation of sense gene expression, acting either at a transcriptional or posttranscriptional level. The recent evidence that antisense repeat RNAs could modulate gene expression broadens our understanding of the pathogenic pathways and adds more complexity to the development of therapeutic strategies for these disorders. In this review, we cover the amazing progress made in the understanding of the pathogenic mechanisms associated with repeat expansion neurodegenerative and neuromuscular diseases with a focus on the impact of antisense repeat transcription in the development of efficient therapies.<\/jats:p>","DOI":"10.3390\/genes11121418","type":"journal-article","created":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T09:16:49Z","timestamp":1606468609000},"page":"1418","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries"],"prefix":"10.3390","volume":"11","author":[{"given":"Ana F.","family":"Castro","sequence":"first","affiliation":[{"name":"Genetics of Cognitive Dysfunction Laboratory, i3S- Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"IBMC-Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"ICBAS, Universidade do Porto, 4050-313 Porto, Portugal"}]},{"given":"Joana R.","family":"Loureiro","sequence":"additional","affiliation":[{"name":"Genetics of Cognitive Dysfunction Laboratory, i3S- Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"IBMC-Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal"}]},{"given":"Jos\u00e9","family":"Bessa","sequence":"additional","affiliation":[{"name":"IBMC-Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"Vertebrate Development and Regeneration Laboratory, i3S- Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, 4200-135 Porto, Portugal"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2610-5260","authenticated-orcid":false,"given":"Isabel","family":"Silveira","sequence":"additional","affiliation":[{"name":"Genetics of Cognitive Dysfunction Laboratory, i3S- Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto, 4200-135 Porto, Portugal"},{"name":"IBMC-Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.neurobiolaging.2015.12.007","article-title":"Unstable repeat expansions in neurodegenerative diseases: Nucleocytoplasmic transport emerges on the scene","volume":"39","author":"Loureiro","year":"2016","journal-title":"Neurobiol. Aging"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1146\/annurev-pathmechdis-012418-012857","article-title":"Polyglutamine Repeats in Neurodegenerative Diseases","volume":"14","author":"Lieberman","year":"2019","journal-title":"Annu. Rev. Pathol. Mech. Dis."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1038\/nrn.2017.92","article-title":"Polyglutamine spinocerebellar ataxias\u2014From genes to potential treatments","volume":"18","author":"Paulson","year":"2017","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e101112","DOI":"10.15252\/embj.2018101112","article-title":"RNA toxicity in non-coding repeat expansion disorders","volume":"39","author":"Swinnen","year":"2020","journal-title":"EMBO J."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1073\/pnas.1013343108","article-title":"Non-ATG\u2013initiated translation directed by microsatellite expansions","volume":"108","author":"Zu","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1016\/j.neuron.2017.08.039","article-title":"RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2","volume":"95","author":"Zu","year":"2017","journal-title":"Neuron"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1146\/annurev-neuro-070918-050405","article-title":"Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease","volume":"42","author":"Nguyen","year":"2019","journal-title":"Annu. Rev. Neurosci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/j.molcel.2005.09.002","article-title":"Antisense Transcription and Heterochromatin at the DM1 CTG Repeats Are Constrained by CTCF","volume":"20","author":"Cho","year":"2005","journal-title":"Mol. Cell"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1038\/ng1827","article-title":"Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8","volume":"38","author":"Moseley","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1002\/ana.24761","article-title":"ATXN2-AS, a gene antisense toATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis","volume":"80","author":"Margolis","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1016\/j.neuron.2011.05.027","article-title":"CTCF Regulates Ataxin-7 Expression through Promotion of a Convergently Transcribed, Antisense Noncoding RNA","volume":"70","author":"Sopher","year":"2011","journal-title":"Neuron"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1016\/j.ajhg.2009.09.019","article-title":"Spinocerebellar Ataxia Type 31 Is Associated with \u201cInserted\u201d Penta-Nucleotide Repeats Containing (TGGAA)n","volume":"85","author":"Sato","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"107616","DOI":"10.1016\/j.celrep.2020.107616","article-title":"Hexanucleotide Repeat Expansions in c9FTD\/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo","volume":"31","author":"Todd","year":"2020","journal-title":"Cell Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/j.neuron.2020.04.011","article-title":"Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS\/FTD and SCA36","volume":"107","author":"McEachin","year":"2020","journal-title":"Neuron"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"3174","DOI":"10.1093\/hmg\/ddm293","article-title":"An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals","volume":"16","author":"Ladd","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1007\/s00401-013-1189-3","article-title":"Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins","volume":"126","author":"Mori","year":"2013","journal-title":"Acta Neuropathol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"3467","DOI":"10.1093\/hmg\/ddr263","article-title":"A natural antisense transcript at the Huntington\u2019s disease repeat locus regulates HTT expression","volume":"20","author":"Chung","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/ana.22598","article-title":"Loss of junctophilin-3 contributes to huntington disease-like 2 pathogenesis","volume":"71","author":"Seixas","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"17217","DOI":"10.1038\/s41598-018-35639-2","article-title":"FAST-1 antisense RNA epigenetically alters FXN expression","volume":"8","author":"Mikaeili","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.ajhg.2019.05.013","article-title":"Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders","volume":"105","author":"Tian","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1038\/s41588-019-0458-z","article-title":"Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease","volume":"51","author":"Ishiura","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/s41572-019-0074-3","article-title":"Spinocerebellar ataxia","volume":"5","author":"Klockgether","year":"2019","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1001\/jamaneurol.2013.1707","article-title":"Hereditary Ataxia and Spastic Paraplegia in Portugal: A population-based prevalence study","volume":"70","author":"Coutinho","year":"2013","journal-title":"JAMA Neurol."},{"key":"ref_24","first-page":"227","article-title":"Epidemiology and population genetics of degenerative ataxias","volume":"103","author":"Sequeiros","year":"2012","journal-title":"Stroke"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/j.ajhg.2017.06.007","article-title":"A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia","volume":"101","author":"Seixas","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"ref_26","first-page":"842","article-title":"The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia","volume":"60","author":"Geschwind","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1093\/hmg\/6.5.709","article-title":"Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families","volume":"6","author":"Cancel","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1590\/S0004-282X1997000400001","article-title":"Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD\/SCA3 and DRPLA) in a large group of Brazilian patients","volume":"55","author":"Teive","year":"1997","journal-title":"Arq. Neuro Psiquiatr."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1001\/archneur.59.4.623","article-title":"Trinucleotide Repeats in 202 Families With Ataxia: A small expanded (CAG)n allele at the SCA17 locus","volume":"59","author":"Silveira","year":"2002","journal-title":"Arch. Neurol."},{"key":"ref_30","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., and Amemiya, A. (1993\u20132020). Spinocerebellar Ataxia Type 2. GeneReviews\u00ae, University of Washington."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1196-269","article-title":"Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2","volume":"14","author":"Pulst","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_32","first-page":"524","article-title":"Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)","volume":"9999","author":"Ramos","year":"2009","journal-title":"Am. J. Med Genet. Part B Neuropsychiatr. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1093\/hmg\/7.8.1301","article-title":"The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression","volume":"7","author":"Nechiporuk","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1002\/1531-8249(199902)45:2<232::AID-ANA14>3.0.CO;2-7","article-title":"Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer\u2019s disease and spinocerebellar ataxia 2","volume":"45","author":"Huynh","year":"1999","journal-title":"Ann. Neurol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.bbrc.2005.10.186","article-title":"Generation and characterization of Sca2 (ataxin-2) knockout mice","volume":"339","author":"Kiehl","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/79162","article-title":"Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human","volume":"26","author":"Huynh","year":"2000","journal-title":"Nat. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1093\/hmg\/dds427","article-title":"Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2","volume":"22","author":"Hansen","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.expneurol.2008.09.020","article-title":"Ataxin-2 associates with rough endoplasmic reticulum","volume":"215","author":"Eich","year":"2009","journal-title":"Exp. Neurol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1093\/hmg\/ddg175","article-title":"Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death","volume":"12","author":"Huynh","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Damrath, E., Heck, M.V., Gispert, S., Azizov, M., Nowock, J., Seifried, C., R\u00fcb, U., Walter, M., and Auburger, G. (2012). ATXN2-CAG42 Sequesters PABPC1 into Insolubility and Induces FBXW8 in Cerebellum of Old Ataxic Knock-In Mice. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1002920"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.molcel.2014.05.022","article-title":"Direct Binding of Ataxin-2 to Distinct Elements in 3\u2032 UTRs Promotes mRNA Stability and Protein Expression","volume":"55","author":"Yokoshi","year":"2014","journal-title":"Mol. Cell"},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Dansithong, W., Paul, S., Figueroa, K.P., Rinehart, M.D., Wiest, S., Pflieger, L.T., Scoles, D.R., and Pulst, S.M. (2015). Ataxin-2 Regulates RGS8 Translation in a New BAC-SCA2 Transgenic Mouse Model. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005182"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-018-06041-3","article-title":"Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration","volume":"9","author":"Paul","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1093\/hmg\/9.9.1303","article-title":"A novel protein with RNA-binding motifs interacts with ataxin-2","volume":"9","author":"Shibata","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1091\/mbc.e06-12-1120","article-title":"Ataxin-2 Interacts with the DEAD\/H-Box RNA Helicase DDX6 and Interferes with P-Bodies and Stress Granules","volume":"18","author":"Nonhoff","year":"2007","journal-title":"Mol. Biol. Cell"},{"key":"ref_46","first-page":"1069","article-title":"Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS","volume":"466","author":"Elden","year":"2010","journal-title":"Nat. Cell Biol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1101\/gr.6.10.965","article-title":"An expanded CAG repeat sequence in spinocerebellar ataxia type 7","volume":"6","author":"Lindblad","year":"1996","journal-title":"Genome Res."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1038\/ng0997-65","article-title":"Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion","volume":"17","author":"David","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1007\/BF00310370","article-title":"On an autosomal dominant form of retinal-cerebellar degeneration: An autopsy study of five patients in one family","volume":"88","author":"Martin","year":"1994","journal-title":"Acta Neuropathol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"2491","DOI":"10.1093\/hmg\/9.17.2491","article-title":"Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice","volume":"9","author":"Yvert","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/S0896-6273(01)00422-6","article-title":"Polyglutamine-Expanded Ataxin-7 Antagonizes CRX Function and Induces Cone-Rod Dystrophy in a Mouse Model of SCA7","volume":"31","author":"Fu","year":"2001","journal-title":"Neuron"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"4897","DOI":"10.1523\/JNEUROSCI.22-12-04897.2002","article-title":"Polyglutamine-Expanded Ataxin-7 Promotes Non-Cell-Autonomous Purkinje Cell Degeneration and Displays Proteolytic Cleavage in Ataxic Transgenic Mice","volume":"22","author":"Garden","year":"2002","journal-title":"J. Neurosci."},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Helmlinger, D., Hardy, S., Abou-Sleymane, G., Eberlin, A., Bowman, A.B., Gansmuller, A., Picaud, S., Zoghbi, H.Y., Trottier, Y., and Tora, L. (2006). Glutamine-Expanded Ataxin-7 Alters TFTC\/STAGA Recruitment and Chromatin Structure Leading to Photoreceptor Dysfunction. PLoS Biol., 4.","DOI":"10.1371\/journal.pbio.0040067"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/S0896-6273(02)01190-X","article-title":"SCA7 Knockin Mice Model Human SCA7 and Reveal Gradual Accumulation of Mutant Ataxin-7 in Neurons and Abnormalities in Short-Term Plasticity","volume":"37","author":"Yoo","year":"2003","journal-title":"Neuron"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1093\/hmg\/ddh139","article-title":"Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes","volume":"13","author":"Helmlinger","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"6782","DOI":"10.1128\/MCB.21.20.6782-6795.2001","article-title":"Human STAGA Complex Is a Chromatin-Acetylating Transcription Coactivator That Interacts with Pre-mRNA Splicing and DNA Damage-Binding Factors In Vivo","volume":"21","author":"Martinez","year":"2001","journal-title":"Mol. Cell. Biol."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"8472","DOI":"10.1073\/pnas.0503505102","article-title":"Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration","volume":"102","author":"Palhan","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1093\/hmg\/ddh005","article-title":"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","volume":"13","author":"Chen","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s13024-016-0123-2","article-title":"Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS\/TLS and MBNL1 RNA-binding proteins","volume":"11","author":"Alves","year":"2016","journal-title":"Mol. Neurodegener."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"21319","DOI":"10.1073\/pnas.1218331110","article-title":"Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes","volume":"109","author":"McCullough","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Yanicostas, C., Barbieri, E., Hibi, M., Brice, A., Stevanin, G., and Soussi-Yanicostas, N. (2012). Requirement for Zebrafish Ataxin-7 in Differentiation of Photoreceptors and Cerebellar Neurons. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0050705"},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Libby, R.T., Hagerman, K.A., Pineda, V.V., Lau, R., Cho, D.H., Baccam, S.L., Axford, M.M., Cleary, J.D., Moore, J.M., and Sopher, B.L. (2008). CTCF cis-Regulates Trinucleotide Repeat Instability in an Epigenetic Manner: A Novel Basis for Mutational Hot Spot Determination. PLoS Genet., 4.","DOI":"10.1371\/journal.pgen.1000257"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/7710","article-title":"An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)","volume":"21","author":"Koob","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1212\/WNL.54.4.950","article-title":"Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan","volume":"54","author":"Ikeda","year":"2000","journal-title":"Neurology"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1093\/hmg\/9.14.2125","article-title":"SCA8 CTG repeat: En masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance","volume":"9","author":"Moseley","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1212\/WNL.55.5.649","article-title":"Spinocerebellar ataxia type 8: Clinical features in a large family","volume":"55","author":"Day","year":"2000","journal-title":"Neurology"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.cub.2004.01.034","article-title":"The Spinocerebellar Ataxia 8 Noncoding RNA Causes Neurodegeneration and Associates with Staufen in Drosophila","volume":"14","author":"Mutsuddi","year":"2004","journal-title":"Curr. Biol."},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Daughters, R.S., Tuttle, D.L., Gao, W., Ikeda, Y., Moseley, M.L., Ebner, T.J., Swanson, M.S., and Ranum, L.P.W. (2009). RNA Gain-of-Function in Spinocerebellar Ataxia Type 8. PLoS Genet., 5.","DOI":"10.1371\/journal.pgen.1000600"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"e99023","DOI":"10.15252\/embj.201899023","article-title":"SCA 8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF 3F","volume":"37","author":"Ayhan","year":"2018","journal-title":"EMBO J."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1093\/hmg\/9.10.1543","article-title":"The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)","volume":"9","author":"Nemes","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"ref_71","first-page":"134","article-title":"The transcript () is evolutionarily conserved","volume":"13","author":"Benzow","year":"2002","journal-title":"Mamm. Genome"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"9975","DOI":"10.1523\/JNEUROSCI.2595-06.2006","article-title":"Targeted Deletion of a Single Sca8 Ataxia Locus Allele in Mice Causes Abnormal Gait, Progressive Loss of Motor Coordination, and Purkinje Cell Dendritic Deficits","volume":"26","author":"He","year":"2006","journal-title":"J. Neurosci."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1007\/s12311-008-0010-7","article-title":"Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes","volume":"7","author":"Ikeda","year":"2008","journal-title":"Cerebellum"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1111\/neup.12032","article-title":"Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)nin the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis","volume":"33","author":"Niimi","year":"2013","journal-title":"Neuropathology"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.neuron.2017.02.046","article-title":"Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31","volume":"94","author":"Ishiguro","year":"2017","journal-title":"Neuron"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1007\/s13311-019-00804-6","article-title":"Molecular Mechanisms and Future Therapeutics for Spinocerebellar Ataxia Type 31 (SCA31)","volume":"16","author":"Ishikawa","year":"2019","journal-title":"Neurother."},{"key":"ref_77","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Stephens, K., and Amemiya, A. (1993\u20132020). Friedreich Ataxia. GeneReviews\u00ae, University of Washington."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich\u2019s Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1050","DOI":"10.1002\/acn3.51079","article-title":"Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia","volume":"7","author":"Naeije","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_80","first-page":"909","article-title":"DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing","volume":"422","author":"Saveliev","year":"2003","journal-title":"Nat. Cell Biol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"3383","DOI":"10.1093\/nar\/gkm271","article-title":"Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia","volume":"35","author":"Greene","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/nchembio815","article-title":"Histone deacetylase inhibitors reverse gene silencing in Friedreich\u2019s ataxia","volume":"2","author":"Herman","year":"2006","journal-title":"Nat. Chem. Biol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1093\/hmg\/ddm346","article-title":"The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues","volume":"17","author":"Pinto","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"15194","DOI":"10.1074\/jbc.M114.566414","article-title":"Altered nucleosome positioning at the transcription start site and deficient transcriptional initiation in Friedreich ataxia","volume":"289","author":"Chutake","year":"2014","journal-title":"J. Biol. Chem."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/ng1097-215","article-title":"Aconitase and mitochondrial iron\u2013sulphur protein deficiency in Friedreich ataxia","volume":"17","author":"Chretien","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","unstructured":"Li, K., Singh, A., Crooks, D.R., Dai, X., Cong, Z., Pan, L., Ha, D., and Rouault, T.A. (2010). Expression of Human Frataxin Is Regulated by Transcription Factors SRF and TFAP2. PLoS ONE, 5.","DOI":"10.1371\/journal.pone.0012286"},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"De Biase, I., Chutake, Y.K., Rindler, P.M., and Bidichandani, S.I. (2009). Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription. PLoS ONE, 4.","DOI":"10.1371\/journal.pone.0007914"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2011.09.010","article-title":"A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD","volume":"72","author":"Renton","year":"2011","journal-title":"Neuron"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.neuron.2011.09.011","article-title":"Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS","volume":"72","author":"MacKenzie","year":"2011","journal-title":"Neuron"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.ajhg.2011.05.015","article-title":"Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement","volume":"89","author":"Kobayashi","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1093\/brain\/aws069","article-title":"\u2018Costa da Morte\u2019 ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization","volume":"135","author":"Arias","year":"2012","journal-title":"Brain"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1111\/ene.12491","article-title":"Characteristic RNA foci of the abnormal hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type 36 (Asidan)","volume":"21","author":"Liu","year":"2014","journal-title":"Eur. J. Neurol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"2040","DOI":"10.1093\/brain\/awu120","article-title":"Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions","volume":"137","author":"Walsh","year":"2014","journal-title":"Brain"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1002\/ana.23946","article-title":"Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis","volume":"74","author":"Ciura","year":"2013","journal-title":"Ann. Neurol."},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"Therrien, M., Rouleau, G.A., Dion, P.A., and Parker, J.A. (2013). Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0083450"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"E4968","DOI":"10.1073\/pnas.1315438110","article-title":"RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia","volume":"110","author":"Zu","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1007\/s00401-013-1192-8","article-title":"Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD\/ALS","volume":"126","author":"Gendron","year":"2013","journal-title":"Acta Neuropathol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s40478-016-0306-7","article-title":"C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers","volume":"4","author":"Rizzu","year":"2016","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/j.neuron.2015.10.027","article-title":"C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS\/FTD","volume":"88","author":"Bogdanik","year":"2015","journal-title":"Neuron"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1016\/j.neuron.2015.11.018","article-title":"Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice","volume":"88","author":"Peters","year":"2015","journal-title":"Neuron"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.neuron.2016.04.005","article-title":"C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS\/FTD","volume":"90","author":"Liu","year":"2016","journal-title":"Neuron"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1151","DOI":"10.1126\/science.aaa9344","article-title":"C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits","volume":"348","author":"Chew","year":"2015","journal-title":"Science"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.omtn.2017.06.017","article-title":"Antisense Oligonucleotides Reduce RNA Foci in Spinocerebellar Ataxia 36 Patient iPSCs","volume":"8","author":"Matsuzono","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1007\/s00401-017-1798-3","article-title":"Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS\/FTD","volume":"135","author":"Moens","year":"2018","journal-title":"Acta Neuropathol."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1126\/science.1256800","article-title":"C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins","volume":"345","author":"Mizielinska","year":"2014","journal-title":"Science"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/s00401-017-1796-5","article-title":"A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism","volume":"135","author":"Swinnen","year":"2018","journal-title":"Acta Neuropathol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(91)90397-H","article-title":"Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome","volume":"65","author":"Verkerk","year":"1991","journal-title":"Cell"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1212\/WNL.57.1.127","article-title":"Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X","volume":"57","author":"Hagerman","year":"2001","journal-title":"Neurology"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1093\/hmg\/1.8.571","article-title":"Methylation analysis of CGG sites in the CpG island of the human FMR1 gene","volume":"1","author":"Hansen","year":"1992","journal-title":"Hum. Mol. Genet."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/0092-8674(91)90125-I","article-title":"Absence of expression of the FMR-1 gene in fragile X syndrome","volume":"66","author":"Pieretti","year":"1991","journal-title":"Cell"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1038\/8807","article-title":"Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells","volume":"22","author":"Coffee","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1086\/342931","article-title":"Histone Modifications Depict an Aberrantly Heterochromatinized FMR1 Gene in Fragile X Syndrome","volume":"71","author":"Coffee","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1261\/rna.280807","article-title":"Elevated FMR1 mRNA in premutation carriers is due to increased transcription","volume":"13","author":"Tassone","year":"2007","journal-title":"RNA"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1086\/302720","article-title":"Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome","volume":"66","author":"Tassone","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1093\/hmg\/10.14.1449","article-title":"Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers","volume":"10","author":"Kenneson","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1093\/brain\/awf184","article-title":"Neuronal intranuclear inclusions in a new cerebellar tremor\/ataxia syndrome among fragile X carriers","volume":"125","author":"Greco","year":"2002","journal-title":"Brain"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"103","DOI":"10.4161\/rna.1.2.1035","article-title":"FMR1 RNA within the Intranuclear Inclusions of Fragile X-Associated Tremor\/Ataxia Syndrome (FXTAS)","volume":"1","author":"Tassone","year":"2004","journal-title":"RNA Biol."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1093\/brain\/awh650","article-title":"Protein composition of the intranuclear inclusions of FXTAS","volume":"129","author":"Iwahashi","year":"2005","journal-title":"Brain"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"1693","DOI":"10.1093\/hmg\/10.16.1693","article-title":"Instability of a (CGG)98 repeat in the Fmr1 promoter","volume":"10","author":"Bontekoe","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1093\/hmg\/ddg114","article-title":"The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor\/ataxia syndrome","volume":"12","author":"Willemsen","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"2443","DOI":"10.1093\/hmg\/ddp182","article-title":"Ectopic expression of CGG containing mRNA is neurotoxic in mammals","volume":"18","author":"Hashem","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1016\/S0896-6273(03)00533-6","article-title":"RNA-Mediated Neurodegeneration Caused by the Fragile X Premutation rCGG Repeats in Drosophila","volume":"39","author":"Jin","year":"2003","journal-title":"Neuron"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.neuron.2007.07.021","article-title":"RNA-Binding Proteins hnRNP A2\/B1 and CUGBP1 Suppress Fragile X CGG Premutation Repeat-Induced Neurodegeneration in a Drosophila Model of FXTAS","volume":"55","author":"Sofola","year":"2007","journal-title":"Neuron"},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.neuron.2007.07.020","article-title":"Pur \u03b1 Binds to rCGG Repeats and Modulates Repeat-Mediated Neurodegeneration in a Drosophila Model of Fragile X Tremor\/Ataxia Syndrome","volume":"55","author":"Jin","year":"2007","journal-title":"Neuron"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"3811","DOI":"10.1093\/hmg\/ddr299","article-title":"Cellular toxicity of expanded RNA repeats: Focus on RNA foci","volume":"20","author":"Wojciechowska","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.neuron.2013.03.026","article-title":"CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome","volume":"78","author":"Todd","year":"2013","journal-title":"Neuron"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1186\/s40478-019-0782-7","article-title":"Neuropathology of RAN translation proteins in fragile X-associated tremor\/ataxia syndrome","volume":"7","author":"Krans","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40478-014-0162-2","article-title":"FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor\/ataxia syndrome","volume":"2","author":"Buijsen","year":"2014","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"2326","DOI":"10.1093\/hmg\/ddm186","article-title":"Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat","volume":"16","author":"Sofola","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1002\/ana.24800","article-title":"Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor\/ataxia syndrome","volume":"80","author":"Krans","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"3170","DOI":"10.1093\/brain\/aww249","article-title":"Clinicopathological features of adult-onset neuronal intranuclear inclusion disease","volume":"139","author":"Sone","year":"2016","journal-title":"Brain"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1016\/j.cell.2018.03.051","article-title":"Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis","volume":"173","author":"Fiddes","year":"2018","journal-title":"Cell"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1016\/j.cell.2018.03.067","article-title":"Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta\/Notch Regulation","volume":"173","author":"Suzuki","year":"2018","journal-title":"Cell"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1038\/s41588-019-0459-y","article-title":"Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease","volume":"51","author":"Sone","year":"2019","journal-title":"Nat. Genet."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1097\/NEN.0b013e31816b4aee","article-title":"A Comparison of Huntington Disease and Huntington Disease-Like 2 Neuropathology","volume":"67","author":"Rudnicki","year":"2008","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington\u2019s disease chromosomes","volume":"72","author":"Macdonald","year":"1993","journal-title":"Cell"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1002\/ana.1312","article-title":"A disorder similar to Huntington\u2019s disease is associated with a novel CAG repeat expansion","volume":"50","author":"Margolis","year":"2001","journal-title":"Ann. Neurol."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1038\/ng760","article-title":"A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease\u2013like 2","volume":"29","author":"Holmes","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S0092-8674(00)81369-0","article-title":"Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice","volume":"87","author":"Mangiarini","year":"1996","journal-title":"Cell"},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/S0092-8674(00)80513-9","article-title":"Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation","volume":"90","author":"Davies","year":"1997","journal-title":"Cell"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1093\/hmg\/8.3.397","article-title":"Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin [published erratum appears in Hum Mol Genet 1999 May;8(5):943]","volume":"8","author":"Schilling","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1093\/hmg\/7.5.783","article-title":"Truncated N-terminal fragments of huntingtin with expanded glutamine repeats form nuclear and cytoplasmic aggregates in cell culture","volume":"7","author":"Cooper","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1126\/science.277.5334.1990","article-title":"Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain","volume":"277","author":"DiFiglia","year":"1997","journal-title":"Science"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1006\/nbdi.1998.0168","article-title":"Intranuclear Neuronal Inclusions in Huntington\u2019s Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length","volume":"4","author":"Becher","year":"1998","journal-title":"Neurobiol. Dis."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"15005","DOI":"10.1038\/nrdp.2015.5","article-title":"Huntington disease","volume":"1","author":"Bates","year":"2015","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"6763","DOI":"10.1073\/pnas.100110097","article-title":"The Huntington\u2019s disease protein interacts with p53 and CREB-binding protein and represses transcription","volume":"97","author":"Steffan","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"2423","DOI":"10.1126\/science.1056784","article-title":"Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity","volume":"291","author":"Nucifora","year":"2001","journal-title":"Science"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/hmg\/ddg002","article-title":"Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein","volume":"12","author":"Jiang","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1093\/hmg\/8.9.1647","article-title":"Aberrant interactions of transcriptional repressor proteins with the Huntington\u2019s disease gene product, huntingtin","volume":"8","author":"Boutell","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1023\/B:SCAM.0000007124.19463.e5","article-title":"Amyloid formation by mutant huntingtin: Threshold, progressivity and recruitment of normal polyglutamine proteins","volume":"24","author":"Huang","year":"1998","journal-title":"Somat. Cell Mol. Genet."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"3852","DOI":"10.1093\/nar\/gkq1323","article-title":"Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference","volume":"39","author":"Wojciechowska","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"12521","DOI":"10.1038\/srep12521","article-title":"Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65","volume":"5","author":"Sun","year":"2015","journal-title":"Sci. Rep."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.neuron.2017.03.023","article-title":"Mutant Huntingtin Disrupts the Nuclear Pore Complex","volume":"94","author":"Grima","year":"2017","journal-title":"Neuron"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1007\/s12311-012-0447-6","article-title":"Expression of Expanded CAG Transcripts Triggers Nucleolar Stress in Huntington\u2019s Disease","volume":"12","author":"Tsoi","year":"2013","journal-title":"Cerebellum"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13024-015-0018-7","article-title":"Making (anti-) sense out of huntingtin levels in Huntington disease","volume":"10","author":"Evers","year":"2015","journal-title":"Mol. Neurodegener."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1016\/j.neuron.2015.10.038","article-title":"RAN Translation in Huntington Disease","volume":"88","author":"Ayhan","year":"2015","journal-title":"Neuron"},{"key":"ref_157","doi-asserted-by":"crossref","unstructured":"B\u00e1\u00f1ez-Coronel, M., Porta, S., Kagerbauer, B., Mateu-Huertas, E., Pantano, L., Ferrer, I., Guzm\u00e1n, M., Estivill, X., and Mart\u00ed, E. (2012). A Pathogenic Mechanism in Huntington\u2019s Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1002481"},{"key":"ref_158","doi-asserted-by":"crossref","unstructured":"Rudnicki, D.D., Margolis, R.L., Pearson, C.E., and Krzyzosiak, W.J. (2012). Diced triplets expose neurons to RISC. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1002545"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"3757","DOI":"10.1093\/hmg\/ddr292","article-title":"Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases","volume":"20","author":"Lawlor","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1006\/bbrc.2000.3011","article-title":"Characterization of Human Junctophilin Subtype Genes","volume":"273","author":"Nishi","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_161","first-page":"11","article-title":"JunctophilinsA Novel Family of Junctional Membrane Complex Proteins","volume":"6","author":"Takeshima","year":"2000","journal-title":"Mol. Cell"},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1006\/bbrc.2002.6649","article-title":"Motor Discoordination in Mutant Mice Lacking Junctophilin Type 3","volume":"292","author":"Nishia","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/ana.21081","article-title":"Huntington\u2019s disease-like 2 is associated with CUG repeat-containing RNA foci","volume":"61","author":"Rudnicki","year":"2007","journal-title":"Ann. Neurol."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.neuron.2011.03.021","article-title":"An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington\u2019s Disease-like 2 Mice","volume":"70","author":"Wilburn","year":"2011","journal-title":"Neuron"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1016\/j.ncl.2014.04.011","article-title":"Myotonic Dystrophy","volume":"32","author":"Thornton","year":"2014","journal-title":"Neurol. Clin."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","article-title":"Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member","volume":"68","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1126\/science.1546325","article-title":"Myotonic dystrophy mutation: An unstable CTG repeat in the 3\u2032 untranslated region of the gene","volume":"255","author":"Mahadevan","year":"1992","journal-title":"Science"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"13926","DOI":"10.1074\/jbc.M109761200","article-title":"In Vitro(CTG)\u00b7(CAG) Expansions and Deletions by Human Cell Extracts","volume":"277","author":"Panigrahi","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1126\/science.1062125","article-title":"Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9","volume":"293","author":"Liquori","year":"2001","journal-title":"Science"},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1086\/301711","article-title":"The DMPK Gene of Severely Affected Myotonic Dystrophy Patients Is Hypermethylated Proximal to the Largely Expanded CTG Repeat","volume":"62","author":"Steinbach","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1083\/jcb.128.6.995","article-title":"Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues","volume":"128","author":"Taneja","year":"1995","journal-title":"J. Cell Biol."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"7388","DOI":"10.1073\/pnas.94.14.7388","article-title":"Expansion of a CUG trinucleotide repeat in the 3\u2032 untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts","volume":"94","author":"Davis","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1126\/science.8469976","article-title":"Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy","volume":"260","author":"Fu","year":"1993","journal-title":"Science"},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/ng0796-325","article-title":"Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy","volume":"13","author":"Reddy","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1172\/JCI5346","article-title":"DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model","volume":"103","author":"Berul","year":"1999","journal-title":"J. Clin. Investig."},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1126\/science.289.5485.1769","article-title":"Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat","volume":"289","author":"Mankodi","year":"2000","journal-title":"Sci."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.jmb.2007.01.088","article-title":"Department of Infectious DiseasesThe Fifth Affiliated Hospital of Sun Yat-sen University 519000 Zhuhai China Haploinsuffciency for Znf9 in Znf9+\/\u2212 Mice Is Associated with Multiorgan Abnormalities Resembling Myotonic Dystrophy","volume":"368","author":"Chen","year":"2007","journal-title":"J. Mol. Biol."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"MCB.00649-17","DOI":"10.1128\/MCB.00649-17","article-title":"Reduction of Cellular Nucleic Acid Binding Protein Encoded by a Myotonic Dystrophy Type 2 Gene Causes Muscle Atrophy","volume":"38","author":"Wei","year":"2018","journal-title":"Mol. Cell. Biol."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"9042","DOI":"10.1523\/JNEUROSCI.1983-09.2009","article-title":"Reduction of the rate of protein translation in patients with myotonic dystrophy 2","volume":"29","author":"Huichalaf","year":"2009","journal-title":"J. Neurosci."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"3025","DOI":"10.2353\/ajpath.2010.100179","article-title":"Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2","volume":"177","author":"Raheem","year":"2010","journal-title":"Am. J. Pathol."},{"key":"ref_181","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1093\/hmg\/10.19.2165","article-title":"Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2","volume":"10","author":"Mankodi","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1093\/hmg\/5.1.115","article-title":"Novel Proteins with Binding Specificity for DNA CTG Repeats And RNA Cug Repeats: Implications for Myotonic Dystrophy","volume":"5","author":"Timchenko","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"4407","DOI":"10.1093\/nar\/24.22.4407","article-title":"Identification of a (CUG)n Triplet Repeat RNA-Binding Protein and Its Expression in Myotonic Dystrophy","volume":"24","author":"Timchenko","year":"1996","journal-title":"Nucleic Acids Res."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1093\/hmg\/11.7.805","article-title":"Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells","volume":"11","author":"Fardaei","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1086\/383590","article-title":"Myotonic Dystrophy: RNA Pathogenesis Comes into Focus","volume":"74","author":"Ranum","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1042\/BST0371281","article-title":"Pathogenic mechanisms of myotonic dystrophy","volume":"37","author":"Lee","year":"2009","journal-title":"Biochem. Soc. Trans."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"3079","DOI":"10.1093\/hmg\/ddh327","article-title":"Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons","volume":"13","author":"Jiang","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1161\/01.RES.0000193598.89753.e3","article-title":"Nuclear RNA Foci in the Heart in Myotonic Dystrophy","volume":"97","author":"Mankodi","year":"2005","journal-title":"Circ. Res."},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1126\/science.1088583","article-title":"A Muscleblind Knockout Model for Myotonic Dystrophy","volume":"302","author":"Kanadia","year":"2003","journal-title":"Science"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"2138","DOI":"10.1093\/hmg\/ddl137","article-title":"MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1","volume":"15","author":"Ukani","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"ref_191","first-page":"143","article-title":"Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1","volume":"7","author":"Todd","year":"2013","journal-title":"Dis. Model. Mech."},{"key":"ref_192","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1016\/j.bbadis.2013.03.002","article-title":"RNA toxicity in human disease and animal models: From the uncovering of a new mechanism to the development of promising therapies","volume":"1832","author":"Sicot","year":"2013","journal-title":"Biochim. et Biophys. Acta (BBA) Mol. Basis Dis."},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"5465","DOI":"10.1073\/pnas.92.12.5465","article-title":"Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure","volume":"92","author":"Otten","year":"1995","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1038\/ng0897-407","article-title":"Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene","volume":"16","author":"Thornton","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/ng0897-402","article-title":"Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP","volume":"16","author":"Klesert","year":"1997","journal-title":"Nat. Genet."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1093\/hmg\/4.10.1919","article-title":"A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG) n repeat","volume":"4","author":"Boucher","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/ng570","article-title":"CTCF-binding sites flank CTG\/CAG repeats and form a methylation-sensitive insulator at the DM1 locus","volume":"28","author":"Filippova","year":"2001","journal-title":"Nat. Genet."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"1240","DOI":"10.1016\/j.celrep.2017.10.018","article-title":"Aberrant Myokine Signaling in Congenital Myotonic Dystrophy","volume":"21","author":"Nakamori","year":"2017","journal-title":"Cell Rep."},{"key":"ref_199","doi-asserted-by":"crossref","unstructured":"Huguet, A., Medja, F., Nicole, A., Vignaud, A., Guiraud-Dogan, C., Ferry, A., Decostre, V., Hogrel, J.-Y., Metzger, F., and Hoeflich, A. (2012). Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1000 CTG Repeats from the Human DM1 Locus. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1003043"},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/15476286.2018.1454812","article-title":"Oligonucleotide therapeutics in neurodegenerative diseases","volume":"15","author":"Scoles","year":"2018","journal-title":"RNA Biol."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1038\/mt.2014.108","article-title":"Nonallele Specific Silencing of Ataxin-7 Improves Disease Phenotypes in a Mouse Model of SCA7","volume":"22","author":"Ramachandran","year":"2014","journal-title":"Mol. Ther."},{"key":"ref_202","doi-asserted-by":"crossref","unstructured":"Scholefield, J., Greenberg, L.J., Weinberg, M.S., Arbuthnot, P.B., Abdelgany, A., and Wood, M.J.A. (2009). Design of RNAi Hairpins for Mutation-Specific Silencing of Ataxin-7 and Correction of a SCA7 Phenotype. PLoS ONE, 4.","DOI":"10.1371\/journal.pone.0007232"},{"key":"ref_203","doi-asserted-by":"crossref","unstructured":"Fiszer, A., Wroblewska, J.P., Nowak, B.M., and Krzyzosiak, W.J. (2016). Mutant CAG Repeats Effectively Targeted by RNA Interference in SCA7 Cells. Genes, 7.","DOI":"10.3390\/genes7120132"},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"630","DOI":"10.1038\/gt.2017.71","article-title":"AAV5-miHTT gene therapy demonstrates suppression of mutant huntingtin aggregation and neuronal dysfunction in a rat model of Huntington\u2019s disease","volume":"24","author":"Miniarikova","year":"2017","journal-title":"Gene Ther."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1016\/j.ymthe.2018.06.021","article-title":"AAV5-miHTT Gene Therapy Demonstrates Broad Distribution and Strong Human Mutant Huntingtin Lowering in a Huntington\u2019s Disease Minipig Model","volume":"26","author":"Evers","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"46740","DOI":"10.1038\/srep46740","article-title":"Allele-Selective Suppression of Mutant Huntingtin in Primary Human Blood Cells","volume":"7","author":"Miller","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.omtn.2017.04.011","article-title":"Safe and Efficient Silencing with a Pol II, but Not a Pol lII, Promoter Expressing an Artificial miRNA Targeting Human Huntingtin","volume":"7","author":"Pfister","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/mt.2012.222","article-title":"RNA Interference Targeting CUG Repeats in a Mouse Model of Myotonic Dystrophy","volume":"21","author":"Sobczak","year":"2012","journal-title":"Mol. Ther."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"16949","DOI":"10.1074\/jbc.M501591200","article-title":"Cytoplasmic and Nuclear Retained DMPK mRNAs Are Targets for RNA Interference in Myotonic Dystrophy Cells","volume":"280","author":"Langlois","year":"2005","journal-title":"J. Biol. Chem."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"4971","DOI":"10.1093\/hmg\/ddv219","article-title":"Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy","volume":"24","author":"Bisset","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/j.omtm.2019.03.002","article-title":"AAV5-miHTT Gene Therapy Demonstrates Sustained Huntingtin Lowering and Functional Improvement in Huntington Disease Mouse Models","volume":"13","author":"Spronck","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.omtm.2019.09.010","article-title":"AAV5-miHTT Lowers Huntingtin mRNA and Protein without Off-Target Effects in Patient-Derived Neuronal Cultures and Astrocytes","volume":"15","author":"Keskin","year":"2019","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"e323","DOI":"10.1212\/NXG.0000000000000323","article-title":"Antisense oligonucleotides: A primer","volume":"5","author":"Scoles","year":"2019","journal-title":"Neurol. Genet."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1146\/annurev-neuro-070918-050501","article-title":"Antisense Oligonucleotide Therapies for Neurodegenerative Diseases","volume":"42","author":"Bennett","year":"2019","journal-title":"Annu. Rev. Neurosci."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1517\/17425247.2014.945421","article-title":"Recent advances in characterization of nonviral vectors for delivery of nucleic acids: Impact on their biological performance","volume":"12","author":"Oliveira","year":"2014","journal-title":"Expert Opin. Drug Deliv."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.addr.2015.03.008","article-title":"Antisense oligonucleotides in therapy for neurodegenerative disorders","volume":"87","author":"Evers","year":"2015","journal-title":"Adv. Drug Deliv. Rev."},{"key":"ref_217","first-page":"362","article-title":"Antisense oligonucleotide therapy for spinocerebellar ataxia type 2","volume":"544","author":"Scoles","year":"2017","journal-title":"Nat. Cell Biol."},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1093\/hmg\/ddaa072","article-title":"ALS-associated genes in SCA2 mouse spinal cord transcriptomes","volume":"29","author":"Scoles","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"eaap8677","DOI":"10.1126\/scitranslmed.aap8677","article-title":"Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7","volume":"10","author":"Niu","year":"2018","journal-title":"Sci. Transl. Med."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1056\/NEJMoa1900907","article-title":"Targeting Huntingtin Expression in Patients with Huntington\u2019s Disease","volume":"380","author":"Tabrizi","year":"2019","journal-title":"N. Engl. J. Med."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.omtn.2017.05.007","article-title":"Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice","volume":"7","author":"Jauvin","year":"2017","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.neuron.2016.04.006","article-title":"Gain of Toxicity from ALS\/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs","volume":"90","author":"Jiang","year":"2016","journal-title":"Neuron"},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.neuron.2013.10.015","article-title":"RNA Toxicity from the ALS\/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention","volume":"80","author":"Donnelly","year":"2013","journal-title":"Neuron"},{"key":"ref_224","first-page":"E4530","article-title":"Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration","volume":"110","author":"Baughn","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"eaai7866","DOI":"10.1126\/scitranslmed.aai7866","article-title":"Poly(GP) proteins are a useful pharmacodynamic marker forC9ORF72-associated amyotrophic lateral sclerosis","volume":"9","author":"Gendron","year":"2017","journal-title":"Sci. Transl. Med."},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"eaar3959","DOI":"10.1126\/scitranslmed.aar3959","article-title":"Huntingtin suppression restores cognitive function in a mouse model of Huntington\u2019s disease","volume":"10","author":"Southwell","year":"2018","journal-title":"Sci. Transl. Med."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/12\/1418\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T10:38:24Z","timestamp":1760179104000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/12\/1418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,27]]},"references-count":226,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2020,12]]}},"alternative-id":["genes11121418"],"URL":"https:\/\/doi.org\/10.3390\/genes11121418","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,27]]}}}