{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T03:23:19Z","timestamp":1772248999821,"version":"3.50.1"},"reference-count":154,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,2,15]],"date-time":"2022-02-15T00:00:00Z","timestamp":1644883200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"National Science Center","doi-asserted-by":"publisher","award":["2015\/19\/B\/NZ2\/02453"],"award-info":[{"award-number":["2015\/19\/B\/NZ2\/02453"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Repeat expansion diseases are a group of more than 40 disorders that affect mainly the nervous and\/or muscular system and include myotonic dystrophies, Huntington\u2019s disease, and fragile X syndrome. The mutation-driven expanded repeat tract occurs in specific genes and is composed of tri- to dodeca-nucleotide-long units. Mutant mRNA is a pathogenic factor or important contributor to the disease and has great potential as a therapeutic target. Although repeat expansion diseases are quite well known, there are limited studies concerning polyadenylation events for implicated transcripts that could have profound effects on transcript stability, localization, and translation efficiency. In this review, we briefly present polyadenylation and alternative polyadenylation (APA) mechanisms and discuss their role in the pathogenesis of selected diseases. We also discuss several methods for poly(A) tail measurement (both transcript-specific and transcriptome-wide analyses) and APA site identification\u2014the further development and use of which may contribute to a better understanding of the correlation between APA events and repeat expansion diseases. Finally, we point out some future perspectives on the research into repeat expansion diseases, as well as APA studies.<\/jats:p>","DOI":"10.3390\/cells11040677","type":"journal-article","created":{"date-parts":[[2022,2,15]],"date-time":"2022-02-15T22:43:22Z","timestamp":1644965002000},"page":"677","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Implications of Poly(A) Tail Processing in Repeat Expansion Diseases"],"prefix":"10.3390","volume":"11","author":[{"given":"Pawe\u0142","family":"Joachimiak","sequence":"first","affiliation":[{"name":"Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Ciesio\u0142ka","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grzegorz","family":"Figura","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7829-1926","authenticated-orcid":false,"given":"Agnieszka","family":"Fiszer","sequence":"additional","affiliation":[{"name":"Department of Medical Biotechnology, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Pozna\u0144, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1126\/science.aao6535","article-title":"Architecture of eukaryotic mRNA 3\u2032-end processing machinery","volume":"358","author":"Kumar","year":"2017","journal-title":"Science"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Passmore, L.A., and Coller, J. (2021). Roles of mRNA poly(A) tails in regulation of eukaryotic gene expression. Nat. Rev. Mol. Cell Biol.","DOI":"10.1038\/s41580-021-00417-y"},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Nourse, J., Spada, S., and Danckwardt, S. (2020). Emerging roles of RNA 3\u2032-end cleavage and polyadenylation in pathogenesis, diagnosis and therapy of human disorders. Biomolecules, 10.","DOI":"10.3390\/biom10060915"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2977","DOI":"10.1074\/jbc.REV118.005594","article-title":"Polyadenylation and nuclear export of mRNAs","volume":"294","author":"Stewart","year":"2019","journal-title":"J. Biol. Chem."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1016\/j.molcel.2011.08.017","article-title":"Mechanisms and Consequences of Alternative Polyadenylation","volume":"43","author":"Nishida","year":"2011","journal-title":"Mol. Cell"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/wrna.1540","article-title":"Alternative polyadenylation and the stress response","volume":"10","author":"Sadek","year":"2019","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/s40364-020-00249-6","article-title":"Alternative Polyadenylation: A new frontier in post transcriptional regulation","volume":"8","author":"Ren","year":"2020","journal-title":"Biomark. Res."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/sj.emboj.7601932","article-title":"3\u2032 end mRNA processing: Molecular mechanisms and implications for health and disease","volume":"27","author":"Danckwardt","year":"2008","journal-title":"EMBO J."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1770","DOI":"10.1101\/gad.17268411","article-title":"Ending the message: Poly(A) signals then and now","volume":"25","author":"Proudfoot","year":"2011","journal-title":"Genes Dev."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1101\/gr.132563.111","article-title":"A quantitative atlas of polyadenylation in five mammals","volume":"22","author":"Derti","year":"2012","journal-title":"Genome Res."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1038\/s41576-019-0145-z","article-title":"Alternative cleavage and polyadenylation in health and disease","volume":"20","author":"Gruber","year":"2019","journal-title":"Nat. Rev. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1128\/MMBR.63.2.405-445.1999","article-title":"Formation of mRNA 3\u2032 Ends in Eukaryotes: Mechanism, Regulation, and Interrelationships with Other Steps in mRNA Synthesis","volume":"63","author":"Zhao","year":"1999","journal-title":"Microbiol. Mol. Biol. Rev."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/wrna.56","article-title":"Control of poly(A) tail length","volume":"2","author":"Eckmann","year":"2011","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.tcb.2013.03.006","article-title":"Postage for the messenger: Designating routes for nuclear mRNA export","volume":"23","author":"Natalizio","year":"2013","journal-title":"Trends Cell Biol."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Bresson, S.M., and Conrad, N.K. (2013). The Human Nuclear Poly(A)-Binding Protein Promotes RNA Hyperadenylation and Decay. PLoS Genet., 9.","DOI":"10.1371\/journal.pgen.1003893"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/j.molcel.2019.12.005","article-title":"The Dynamics of Cytoplasmic mRNA Metabolism","volume":"77","author":"Eisen","year":"2020","journal-title":"Mol. Cell"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1038\/nsmb.2311","article-title":"Translational control by changes in poly(A) tail length: Recycling mRNAs","volume":"19","author":"Weill","year":"2012","journal-title":"Nat. Struct. Mol. Biol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"66493","DOI":"10.7554\/eLife.66493","article-title":"The molecular basis of coupling between poly(A)-tail length and translational efficiency","volume":"10","author":"Xiang","year":"2021","journal-title":"eLife"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.tcb.2018.11.002","article-title":"Tales of Detailed Poly(A) Tails","volume":"29","author":"Nicholson","year":"2019","journal-title":"Trends Cell Biol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/S1097-2765(03)00278-8","article-title":"A 3\u2032 Exonuclease that Specifically Interacts with the 3\u2032 End of Histone mRNA","volume":"12","author":"Dominski","year":"2003","journal-title":"Mol. Cell"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1038\/s41587-021-00936-1","article-title":"The RNA Atlas expands the catalog of human non-coding RNAs","volume":"39","author":"Lorenzi","year":"2021","journal-title":"Nat. Biotechnol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.tibs.2016.07.003","article-title":"Linking Long Noncoding RNA Localization and Function","volume":"41","author":"Chen","year":"2016","journal-title":"Trends Biochem. Sci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1038\/nsmb.3499","article-title":"Short poly(A) tails are a conserved feature of highly expressed genes","volume":"24","author":"Lima","year":"2017","journal-title":"Nat. Struct. Mol. Biol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1038\/nature13007","article-title":"Poly(A)-tail profiling reveals an embryonic switch in translational control","volume":"508","author":"Subtelny","year":"2014","journal-title":"Nature"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"8943","DOI":"10.1073\/pnas.96.16.8943","article-title":"The poly(A)-limiting element is a conserved cis-acting sequence that regulates poly(A) tail length on nuclear pre-mRNAs","volume":"96","author":"Gu","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.semcdb.2014.05.018","article-title":"Determinants and implications of mRNA poly(A) tail size\u2014Does this protein make my tail look big?","volume":"34","author":"Jalkanen","year":"2014","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/wrna.1171","article-title":"Specificity factors in cytoplasmic polyadenylation","volume":"4","author":"Charlesworth","year":"2013","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1146\/annurev-cellbio-101011-155831","article-title":"Cytoplasmic polyadenylation element binding proteins in development, health, and disease","volume":"30","author":"Ivshina","year":"2014","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/35080081","article-title":"Translational control by CPEB: A means to the end","volume":"2","author":"Mendez","year":"2001","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.molcel.2012.05.016","article-title":"Bidirectional Control of mRNA Translation and Synaptic Plasticity by the Cytoplasmic Polyadenylation Complex","volume":"47","author":"Udagawa","year":"2012","journal-title":"Mol. Cell"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1126\/science.aam5794","article-title":"Mixed tailing by TENT4A and TENT4B shields mRNA from rapid deadenylation","volume":"361","author":"Lim","year":"2018","journal-title":"Science"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1016\/j.cell.2014.10.055","article-title":"Uridylation by TUT4 and TUT7 marks mRNA for degradation","volume":"159","author":"Lim","year":"2014","journal-title":"Cell"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nature23318","article-title":"MRNA 3\u2032 uridylation and poly(A) tail length sculpt the mammalian maternal transcriptome","volume":"548","author":"Morgan","year":"2017","journal-title":"Nature"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"2724","DOI":"10.1101\/gad.208306.112","article-title":"Circadian control of mRNA polyadenylation dynamics regulates rhythmic protein expression","volume":"26","author":"Kojima","year":"2012","journal-title":"Genes Dev."},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Liu, Y., Nie, H., and Lu, F. (2020). Dynamic RNA 3\u2032 Uridylation and Guanylation during Mitosis. iScience, 23.","DOI":"10.1101\/2020.07.04.187773"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.molcel.2016.04.007","article-title":"Regulation of Poly(A) Tail and Translation during the Somatic Cell Cycle","volume":"62","author":"Park","year":"2016","journal-title":"Mol. Cell"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/nrm.2016.116","article-title":"Alternative polyadenylation of mRNA precursors","volume":"18","author":"Tian","year":"2016","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1016\/j.molmed.2021.04.006","article-title":"Alternative Polyadenylation in Stem Cell Self-Renewal and Differentiation","volume":"27","author":"Sommerkamp","year":"2021","journal-title":"Trends Mol. Med."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1038\/nrg3482","article-title":"Alternative cleavage and polyadenylation: Extent, regulation and function","volume":"14","author":"Elkon","year":"2013","journal-title":"Nat. Rev. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/wrna.47","article-title":"Alternative mRNA polyadenylation in eukaryotes: An effective regulator of gene expression","volume":"2","author":"Lutz","year":"2011","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"5101","DOI":"10.1038\/s41467-021-25388-8","article-title":"The landscape of alternative polyadenylation in single cells of the developing mouse embryo","volume":"12","author":"Agarwal","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/nature14321","article-title":"Alternative 3\u2032 UTRs act as scaffolds to regulate membrane protein localization","volume":"522","author":"Berkovits","year":"2015","journal-title":"Nature"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.cell.2012.03.022","article-title":"The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites","volume":"149","author":"Jenal","year":"2012","journal-title":"Cell"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1080\/15476286.2015.1040974","article-title":"Global insights into alternative polyadenylation regulation","volume":"12","author":"Batra","year":"2015","journal-title":"RNA Biol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/nar\/gkr783","article-title":"RNA-binding protein HuR autoregulates its expression by promoting alternative polyadenylation site usage","volume":"40","author":"Dai","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.molcel.2014.08.027","article-title":"Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease","volume":"56","author":"Batra","year":"2014","journal-title":"Mol. Cell"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"4635","DOI":"10.1073\/pnas.71.11.4635","article-title":"Translational properties of rabbit globin mRNA after specific removal of poly(A) with ribonuclease H","volume":"71","author":"Sippel","year":"1974","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1006\/meth.1998.0705","article-title":"Assaying the polyadenylation state of mRNAs","volume":"17","author":"Richards","year":"1999","journal-title":"Methods"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1261\/rna.031898.111","article-title":"ePAT: A simple method to tag adenylated RNA to measure poly(A)-tail length and other 3\u2032 RACE applications","volume":"18","author":"Vancuylenberg","year":"2012","journal-title":"RNA"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1016\/S0076-6879(08)02624-4","article-title":"Chapter 24 Assays for Determining Poly(A) Tail Length and the Polarity of mRNA Decay in Mammalian Cells","volume":"448","author":"Murray","year":"2008","journal-title":"Methods Enzymol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/29.12.e57","article-title":"A new G-tailing method for the determination of the poly(A) tail length applied to hepatitis A virus RNA","volume":"29","author":"Kusov","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1038\/nmeth.4577","article-title":"Highly parallel direct RN A sequencing on an array of nanopores","volume":"15","author":"Garalde","year":"2018","journal-title":"Nat. Methods"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1016\/j.molcel.2014.02.007","article-title":"TAIL-seq: Genome-wide determination of poly(A) tail length and 3\u2032 end modifications","volume":"53","author":"Chang","year":"2014","journal-title":"Mol. Cell"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1671","DOI":"10.1101\/gad.284802.116","article-title":"MTAIL-seq reveals dynamic poly(A) tail regulation in oocyte-to-embryo development","volume":"30","author":"Lim","year":"2016","journal-title":"Genes Dev."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1038\/s41592-019-0503-y","article-title":"FLAM-seq: Full-length mRNA sequencing reveals principles of poly(A) tail length control","volume":"16","author":"Legnini","year":"2019","journal-title":"Nat. Methods"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.neuron.2018.03.030","article-title":"Alternative 3\u2032 UTRs Modify the Localization, Regulatory Potential, Stability, and Plasticity of mRNAs in Neuronal Compartments","volume":"98","author":"Tushev","year":"2018","journal-title":"Neuron"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1841","DOI":"10.1093\/bioinformatics\/bty029","article-title":"APAtrap: Identification and quantification of alternative polyadenylation sites from RNA-seq data","volume":"34","author":"Ye","year":"2018","journal-title":"Bioinformatics"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"5274","DOI":"10.1038\/ncomms6274","article-title":"Dynamic analyses of alternative polyadenylation from RNA-seq reveal a 3\u2032-UTR landscape across seven tumour types","volume":"5","author":"Xia","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1093\/bioinformatics\/btz701","article-title":"ScDAPA: Detection and visualization of dynamic alternative polyadenylation from single cell RNA-seq data","volume":"36","author":"Ye","year":"2020","journal-title":"Bioinformatics"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s13046-021-01852-7","article-title":"Alternative polyadenylation: Methods, mechanism, function, and role in cancer","volume":"40","author":"Zhang","year":"2021","journal-title":"J. Exp. Clin. Cancer Res."},{"key":"ref_61","first-page":"D174","article-title":"PolyASite 2.0: A consolidated atlas of polyadenylation sites from 3\u2032 end sequencing","volume":"48","author":"Herrmann","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_62","first-page":"1","article-title":"APADB: A database for alternative polyadenylation and microRNA regulation events","volume":"2014","author":"Rycak","year":"2014","journal-title":"Database"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1093\/bioinformatics\/btu189","article-title":"A change-point model for identifying 3\u2032UTR switching by next-generation RNA sequencing","volume":"30","author":"Wang","year":"2014","journal-title":"Bioinformatics"},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Grassi, E., Mariella, E., Lembo, A., Molineris, I., and Provero, P. (2016). Roar: Detecting alternative polyadenylation with standard mRNA sequencing libraries. BMC Bioinform., 17.","DOI":"10.1186\/s12859-016-1254-8"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1186\/s13059-018-1414-4","article-title":"QAPA: A new method for the systematic analysis of alternative polyadenylation from RNA-seq data","volume":"19","author":"Ha","year":"2018","journal-title":"Genome Biol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"2521","DOI":"10.1093\/bioinformatics\/bty110","article-title":"TAPAS: Tool for alternative polyadenylation site analysis","volume":"34","author":"Arefeen","year":"2018","journal-title":"Bioinformatics"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1186\/s13059-018-1415-3","article-title":"Discovery of physiological and cancer-related regulators of 3\u2032 UTR processing with KAPAC","volume":"19","author":"Gruber","year":"2018","journal-title":"Genome Biol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"D59","DOI":"10.1093\/nar\/gku1076","article-title":"APASdb: A database describing alternative poly(A) sites and selection of heterogeneous cleavage sites downstream of poly(A) signals","volume":"43","author":"You","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"D315","DOI":"10.1093\/nar\/gkx1000","article-title":"PolyA-DB 3 catalogs cleavage and polyadenylation sites identified by deep sequencing in multiple genomes","volume":"46","author":"Wang","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"D34","DOI":"10.1093\/nar\/gkz876","article-title":"APAatlas: Decoding alternative polyadenylation across human tissues","volume":"48","author":"Hong","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1093\/nar\/gkaa778","article-title":"Animal-APAdb: A comprehensive animal alternative polyadenylation database","volume":"49","author":"Jin","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1038\/s41580-021-00382-6","article-title":"Molecular mechanisms underlying nucleotide repeat expansion disorders","volume":"22","author":"Malik","year":"2021","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.gde.2020.05.029","article-title":"Advances in repeat expansion diseases and a new concept of repeat motif\u2013phenotype correlation","volume":"65","author":"Ishiura","year":"2020","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/B978-0-444-63233-3.00009-9","article-title":"Repeat Expansion Diseases","volume":"147","author":"Paulson","year":"2018","journal-title":"Handb. Clin. Neurol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1093\/nar\/gkr729","article-title":"Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target","volume":"40","author":"Krzyzosiak","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"2819","DOI":"10.1016\/j.csbj.2021.04.037","article-title":"Molecular conformations and dynamics of nucleotide repeats associated with neurodegenerative diseases: Double helices and CAG hairpin loops","volume":"19","author":"Pan","year":"2021","journal-title":"Comput. Struct. Biotechnol. J."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"14644","DOI":"10.1073\/pnas.0803185105","article-title":"GLD2 poly(A) polymerase is required for long-term memory","volume":"105","author":"Jae","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"aao6545","DOI":"10.1126\/scitranslmed.aao6545","article-title":"Activity of the poly(A) binding protein MSUT2 determines susceptibility to pathological tau in the mammalian brain","volume":"11","author":"Wheeler","year":"2019","journal-title":"Sci. Transl. Med."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"6561","DOI":"10.1093\/nar\/gky446","article-title":"The polyadenosine RNA-binding protein ZC3H14 interacts with the THO complex and coordinately regulates the processing of neuronal transcripts","volume":"46","author":"Morris","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/wrna.1488","article-title":"Ataxin-2: A versatile posttranscriptional regulator and its implication in neural function","volume":"9","author":"Lee","year":"2018","journal-title":"Wiley Interdiscip. Rev. RNA"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s12311-008-0019-y","article-title":"Spinocerebellar ataxia 2 (SCA2)","volume":"7","author":"Auburger","year":"2008","journal-title":"Cerebellum"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/nature22038","article-title":"Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice","volume":"544","author":"Becker","year":"2017","journal-title":"Nature"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1093\/nar\/gki158","article-title":"A large-scale analysis of mRNA polyadenylation of human and mouse genes","volume":"33","author":"Tian","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"2380","DOI":"10.1101\/gad.229328.113","article-title":"Ubiquitously transcribed genes use alternative polyadenylation to achieve tissue-specific expression","volume":"27","author":"Lianoglou","year":"2013","journal-title":"Genes Dev."},{"key":"ref_85","first-page":"e1526","article-title":"Tissue-specific mechanisms of alternative polyadenylation: Testis, brain, and beyond (2018 update)","volume":"10","author":"Macdonald","year":"2019","journal-title":"RNA"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.celrep.2012.01.001","article-title":"Global Patterns of Tissue-Specific Alternative Polyadenylation in Drosophila","volume":"1","author":"Smibert","year":"2012","journal-title":"Cell Rep."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1101\/gr.146886.112","article-title":"Widespread and extensive lengthening of 39 UTRs in the mammalian brain","volume":"23","author":"Miura","year":"2013","journal-title":"Genome Res."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/j.molcel.2020.09.007","article-title":"Overlapping Activities of ELAV\/Hu Family RNA Binding Proteins Specify the Extended Neuronal 3\u2032 UTR Landscape in Drosophila","volume":"80","author":"Wei","year":"2020","journal-title":"Mol. Cell"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"2526","DOI":"10.1101\/gad.1106703","article-title":"ELAV inhibits 3\u2032-end processing to promote neural splicing of ewg pre-mRNA","volume":"17","author":"Soller","year":"2003","journal-title":"Genes Dev."},{"key":"ref_90","doi-asserted-by":"crossref","unstructured":"Bae, B., and Miura, P. (2020). Emerging roles for 3\u2032 UTRs in neurons. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21103413"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"3168","DOI":"10.1007\/s00018-008-8252-6","article-title":"Diverse molecular functions of Hu proteins","volume":"65","author":"Hinman","year":"2008","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1038\/s41593-020-00785-2","article-title":"RNA transport and local translation in neurodevelopmental and neurodegenerative disease","volume":"24","author":"Fernandopulle","year":"2021","journal-title":"Nat. Neurosci."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s12915-015-0116-6","article-title":"Comparative RNA-Seq analysis reveals pervasive tissue-specific alternative polyadenylation in Caenorhabditis elegans intestine and muscles","volume":"13","author":"Blazie","year":"2015","journal-title":"BMC Biol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1101\/gad.301004","article-title":"Divergent functions of murine Pax3 and Pax7 in limb muscle development","volume":"18","author":"Relaix","year":"2004","journal-title":"Genes Dev."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1016\/j.stem.2019.03.019","article-title":"PAX3 Confers Functional Heterogeneity in Skeletal Muscle Stem Cell Responses to Environmental Stress","volume":"24","author":"Michineau","year":"2019","journal-title":"Cell Stem Cell"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1016\/j.stem.2019.03.020","article-title":"Lineage Tracing Reveals a Subset of Reserve Muscle Stem Cells Capable of Clonal Expansion under Stress","volume":"24","author":"Scaramozza","year":"2019","journal-title":"Cell Stem Cell"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.stem.2012.01.017","article-title":"Alternative polyadenylation mediates microRNA regulation of muscle stem cell function","volume":"10","author":"Boutet","year":"2012","journal-title":"Cell Stem Cell"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1083\/jcb.201006025","article-title":"MyoD regulates apoptosis of myoblasts through microRNA-mediated down-regulation of Pax3","volume":"191","author":"Hirai","year":"2010","journal-title":"J. Cell Biol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"13383","DOI":"10.1073\/pnas.0900210106","article-title":"Muscle stem cell behavior is modified by microRNA-27 regulation of Pax3 expression","volume":"106","author":"Crist","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0960-8966(97)00085-0","article-title":"Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy","volume":"7","author":"Chateau","year":"1997","journal-title":"Neuromuscul. Disord."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"14848","DOI":"10.1038\/ncomms14848","article-title":"PABPN1 gene therapy for oculopharyngeal muscular dystrophy","volume":"8","author":"Malerba","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.1093\/hmg\/ddp569","article-title":"Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis","volume":"19","author":"Apponi","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1038\/cr.2012.86","article-title":"PABPN1 shuts down alternative poly(A) sites","volume":"22","author":"Simonelig","year":"2012","journal-title":"Cell Res."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/S1474-4422(06)70676-7","article-title":"Fragile-X syndrome and fragile X-associated tremor\/ataxia syndrome: Two faces of FMR1","volume":"6","author":"Jacquemont","year":"2007","journal-title":"Lancet Neurol."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"11585","DOI":"10.1038\/s41598-018-30025-4","article-title":"Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells","volume":"8","author":"Sunamura","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_106","doi-asserted-by":"crossref","unstructured":"Cabal-Herrera, A.M., Tassanakijpanich, N., Salcedo-Arellano, M.J., and Hagerman, R.J. (2020). Fragile X-Associated Tremor\/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21124391"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"6172","DOI":"10.1093\/nar\/gkr100","article-title":"Differential usage of transcriptional start sites and polyadenylation sites in FMR1 premutation alleles","volume":"39","author":"Tassone","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/s41593-018-0293-z","article-title":"Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration","volume":"22","author":"Melamed","year":"2019","journal-title":"Nat. Neurosci."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12920-019-0509-4","article-title":"Alternative cleavage and polyadenylation of genes associated with protein turnover and mitochondrial function are deregulated in Parkinson\u2019s, Alzheimer\u2019s and ALS disease","volume":"12","author":"Patel","year":"2019","journal-title":"BMC Med. Genom."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1038\/s41582-018-0047-2","article-title":"C9orf72-mediated ALS and FTD: Multiple pathways to disease","volume":"14","author":"Balendra","year":"2018","journal-title":"Nat. Rev. Neurol."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/s40478-016-0289-4","article-title":"Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: Implications for the pathogenesis of ALS\/FTD","volume":"4","author":"Niblock","year":"2016","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1038\/nn.4065","article-title":"Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS","volume":"18","author":"Prudencio","year":"2015","journal-title":"Nat. Neurosci."},{"key":"ref_113","doi-asserted-by":"crossref","unstructured":"Giannini, M., Bayona-Feliu, A., Sproviero, D., Barroso, S.I., Cereda, C., and Aguilera, A. (2020). TDP-43 mutations link Amyotrophic Lateral Sclerosis with R-loop homeostasis and R loop-mediated DNA damage. PLoS Genet., 16.","DOI":"10.1101\/2020.05.10.086652"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1080\/15476286.2020.1809186","article-title":"RNA-binding proteins in neurological development and disease","volume":"18","author":"Prashad","year":"2021","journal-title":"RNA Biol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"6889","DOI":"10.1093\/nar\/gkaa410","article-title":"FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention","volume":"48","author":"Humphrey","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"5820","DOI":"10.1093\/nar\/gkw499","article-title":"Increased cytoplasmic TARDBP mRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43","volume":"44","author":"Koyama","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1007\/s13311-018-00679-z","article-title":"Myotonic Dystrophies: Targeting Therapies for Multisystem Disease","volume":"15","author":"LoRusso","year":"2018","journal-title":"Neurotherapeutics"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1111\/brv.12674","article-title":"The hallmarks of myotonic dystrophy type 1 muscle dysfunction","volume":"96","author":"Ozimski","year":"2021","journal-title":"Biol. Rev."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"e0231000","DOI":"10.1371\/journal.pone.0231000","article-title":"Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial","volume":"15","author":"Kurkiewicz","year":"2020","journal-title":"PLoS ONE"},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.bbagrm.2017.04.002","article-title":"Trinucleotide-repeat expanded and normal DMPK transcripts contain unusually long poly(A) tails despite differential nuclear residence","volume":"1860","author":"Gudde","year":"2017","journal-title":"Biochim. Biophys. Acta\u2014Gene Regul. Mech."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1093\/hmg\/ddh056","article-title":"Muscleblind protein, MBNL1\/EXP, binds specifically to CHHG repeats","volume":"13","author":"Kino","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"5474","DOI":"10.1093\/nar\/gkm601","article-title":"Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs","volume":"35","author":"Yuan","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"10873","DOI":"10.1093\/nar\/gku767","article-title":"MBNL proteins and their target RNAs, interaction and splicing regulation","volume":"42","author":"Konieczny","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"9119","DOI":"10.1093\/nar\/gky565","article-title":"MBNL splicing activity depends on RNA binding site structural context","volume":"46","author":"Taylor","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.brainres.2016.02.050","article-title":"Roles for RNA-binding proteins in development and disease","volume":"1647","author":"Brinegar","year":"2016","journal-title":"Brain Res."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1016\/j.cell.2012.06.041","article-title":"Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins","volume":"150","author":"Wang","year":"2012","journal-title":"Cell"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"2369","DOI":"10.1038\/s41467-020-15733-8","article-title":"MBNL1 regulates essential alternative RNA splicing patterns in MLL-rearranged leukemia","volume":"11","author":"Itskovich","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_128","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_129","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_130","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1038\/s41419-020-02756-8","article-title":"MBNL1 reverses the proliferation defect of skeletal muscle satellite cells in myotonic dystrophy type 1 by inhibiting autophagy via the mTOR pathway","volume":"11","author":"Song","year":"2020","journal-title":"Cell Death Dis."},{"key":"ref_131","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_132","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1038\/s41582-020-0389-4","article-title":"Huntington disease: New insights into molecular pathogenesis and therapeutic opportunities","volume":"16","author":"Tabrizi","year":"2020","journal-title":"Nat. Rev. Neurol."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1111\/ene.13413","article-title":"Huntington\u2019s disease: A clinical review","volume":"25","author":"Mccolgan","year":"2018","journal-title":"Eur. J. Neurol."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"3057","DOI":"10.1016\/j.celrep.2017.09.009","article-title":"Alterations in mRNA 3\u2032 UTR Isoform Abundance Accompany Gene Expression Changes in Human Huntington\u2019s Disease Brains","volume":"20","author":"Romo","year":"2017","journal-title":"Cell Rep."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1093\/hmg\/2.10.1541","article-title":"Differential 3\u2032 polyadenylation of the huntington disease gene results in two mRNA species with variable tissue expression","volume":"2","author":"Lin","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"ref_136","doi-asserted-by":"crossref","unstructured":"Xu, H., An, J.J., and Xu, B. (2017). Distinct cellular toxicity of two mutant huntingtin mRNA variants due to translation regulation. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0177610"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.1073\/pnas.1221891110","article-title":"Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease","volume":"110","author":"Sathasivam","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1038\/s41598-017-01510-z","article-title":"The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington\u2019s disease patients","volume":"7","author":"Neueder","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"3955","DOI":"10.1038\/s41467-018-06281-3","article-title":"Regulatory mechanisms of incomplete huntingtin mRNA splicing","volume":"9","author":"Neueder","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"14057","DOI":"10.1038\/s41598-020-71111-w","article-title":"Silencing Srsf6 does not modulate incomplete splicing of the huntingtin gene in Huntington\u2019s disease models","volume":"10","author":"Mason","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_141","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_142","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/j.tig.2019.05.005","article-title":"Transcriptional Control by Premature Termination: A Forgotten Mechanism","volume":"35","author":"Proudfoot","year":"2019","journal-title":"Trends Genet."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3389\/fncel.2017.00097","article-title":"Structural characteristics of simple RNA repeats associated with disease and their deleterious protein interactions","volume":"11","author":"Ciesiolka","year":"2017","journal-title":"Front. Cell. Neurosci."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"D884","DOI":"10.1093\/nar\/gkaa942","article-title":"Ensembl 2021","volume":"49","author":"Howe","year":"2021","journal-title":"Nucleic Acids Res."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"3178","DOI":"10.1093\/bioinformatics\/bts623","article-title":"Lengthening of 3\u2032UTR increases with morphological complexity in animal evolution","volume":"28","author":"Chen","year":"2012","journal-title":"Bioinformatics"},{"key":"ref_146","doi-asserted-by":"crossref","unstructured":"Mayr, C. (2019). What are 3\u2032 utrs doing?. Cold Spring Harb. Perspect. Biol., 11.","DOI":"10.1101\/cshperspect.a034728"},{"key":"ref_147","doi-asserted-by":"crossref","unstructured":"Zhu, S., Lian, Q., Ye, W., Qin, W., Wu, Z., Ji, G., and Wu, X. (2021). scAPAdb: A comprehensive database of alternative polyadenylation at single-cell resolution. Nucleic Acids Res., gkab795.","DOI":"10.1093\/nar\/gkab795"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"1856","DOI":"10.1101\/gr.271346.120","article-title":"Analysis of alternative polyadenylation from singlecell RNA-seq using scDaPars reveals cell subpopulations invisible to gene expression","volume":"31","author":"Gao","year":"2021","journal-title":"Genome Res."},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.neuron.2011.06.031","article-title":"Selective Neuronal Vulnerability in Neurodegenerative Diseases: From Stressor Thresholds to Degeneration","volume":"71","author":"Saxena","year":"2011","journal-title":"Neuron"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"5331","DOI":"10.1038\/s41467-018-07580-5","article-title":"Transcriptome 3\u2032end organization by PCF11 links alternative polyadenylation to formation and neuronal differentiation of neuroblastoma","volume":"9","author":"Ogorodnikov","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1038\/nature13261","article-title":"CFIm25 links alternative polyadenylation to glioblastoma tumour suppression","volume":"510","author":"Masamha","year":"2014","journal-title":"Nature"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"6787","DOI":"10.1093\/nar\/gku385","article-title":"Oligonucleotide-based strategies to combat polyglutamine diseases","volume":"42","author":"Fiszer","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"10426","DOI":"10.1093\/nar\/gkt825","article-title":"Self-duplexing CUG repeats selectively inhibit mutant huntingtin expression","volume":"41","author":"Fiszer","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"ref_154","doi-asserted-by":"crossref","unstructured":"Ciesiolka, A., Stroynowska-Czerwinska, A., Joachimiak, P., Ciolak, A., Kozlowska, E., Michalak, M., Dabrowska, M., Olejniczak, M., Raczynska, K.D., and Zielinska, D. (2020). Artificial miRNAs targeting CAG repeat expansion in ORFs cause rapid deadenylation and translation inhibition of mutant transcripts. Cell. Mol. Life Sci.","DOI":"10.1007\/s00018-020-03596-7"}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/11\/4\/677\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T22:19:58Z","timestamp":1760134798000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/11\/4\/677"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,15]]},"references-count":154,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,2]]}},"alternative-id":["cells11040677"],"URL":"https:\/\/doi.org\/10.3390\/cells11040677","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,15]]}}}