{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:47:36Z","timestamp":1787496456582,"version":"build-2736575974"},"reference-count":59,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2021,3,16]],"date-time":"2021-03-16T00:00:00Z","timestamp":1615852800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"CIBERNED-ISCIII collaborative","award":["PI2015-2\/06-3"],"award-info":[{"award-number":["PI2015-2\/06-3"]}]},{"name":"CIBERNED-ISCIII collaborative","award":["PI2018\/06-1"],"award-info":[{"award-number":["PI2018\/06-1"]}]},{"name":"CIBERNED-ISCIII collaborative","award":["SAF2015-65371-R"],"award-info":[{"award-number":["SAF2015-65371-R"]}]},{"name":"CIBERNED-ISCIII collaborative","award":["RTI2018-096322-B-I00"],"award-info":[{"award-number":["RTI2018-096322-B-I00"]}]},{"DOI":"10.13039\/100014440","name":"MCIU","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish Ministry of Economy and Competitiveness"},{"DOI":"10.13039\/100014440","name":"Ministry of Science, Innovation and Universities","doi-asserted-by":"publisher","award":["BFU2017-89201-P"],"award-info":[{"award-number":["BFU2017-89201-P"]}],"id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014440","name":"Ministry of Science, Innovation and Universities","doi-asserted-by":"publisher","award":["PI18\/00263"],"award-info":[{"award-number":["PI18\/00263"]}],"id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fundaci\u00f3n Ram\u00f3n Areces to CBMSO; Fundaci\u00f3n BBVA"},{"DOI":"10.13039\/100010663","name":"European Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010663","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Union's Horizon 2020 research and innovation program","award":["ERC-StG-LS2-637591"],"award-info":[{"award-number":["ERC-StG-LS2-637591"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,8,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Correction of mis-splicing events is a growing therapeutic approach for neurological diseases such as spinal muscular atrophy or neuronal ceroid lipofuscinosis 7, which are caused by splicing-affecting mutations. Mis-spliced effector genes that do not harbour mutations are also good candidate therapeutic targets in diseases with more complex aetiologies such as cancer, autism, muscular dystrophies or neurodegenerative diseases. Next-generation RNA sequencing (RNA-seq) has boosted investigation of global mis-splicing in diseased tissue to identify such key pathogenic mis-spliced genes. Nevertheless, while analysis of tumour or dystrophic muscle biopsies can be informative on early stage pathogenic mis-splicing, for neurodegenerative diseases, these analyses are intrinsically hampered by neuronal loss and neuroinflammation in post-mortem brains. To infer splicing alterations relevant to Huntington\u2019s disease pathogenesis, here we performed intersect-RNA-seq analyses of human post-mortem striatal tissue and of an early symptomatic mouse model in which neuronal loss and gliosis are not yet present. Together with a human\/mouse parallel motif scan analysis, this approach allowed us to identify the shared mis-splicing signature triggered by the Huntington\u2019s disease-causing mutation in both species and to infer upstream deregulated splicing factors. Moreover, we identified a plethora of downstream neurodegeneration-linked mis-spliced effector genes that\u2014together with the deregulated splicing factors\u2014become new possible therapeutic targets. In summary, here we report pathogenic global mis-splicing in Huntington\u2019s disease striatum captured by our new intersect-RNA-seq approach that can be readily applied to other neurodegenerative diseases for which bona fide animal models are available.<\/jats:p>","DOI":"10.1093\/brain\/awab087","type":"journal-article","created":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T07:14:38Z","timestamp":1615533278000},"page":"2009-2023","source":"Crossref","is-referenced-by-count":65,"title":["Huntington\u2019s disease-specific mis-splicing unveils key effector genes and altered splicing factors"],"prefix":"10.1093","volume":"144","author":[{"given":"Ainara","family":"Elorza","sequence":"first","affiliation":[{"name":"Center for Molecular Biology \u2018Severo Ochoa\u2019 (CBMSO) CSIC\/UAM, Madrid 28049, Spain"},{"name":"Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid 28031, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yamile","family":"M\u00e1rquez","sequence":"additional","affiliation":[{"name":"Centre for Genomic Regulation (CRG), Barcelona Institute for Science and Technology, 08003 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4481-0198","authenticated-orcid":false,"given":"Jorge R","family":"Cabrera","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology \u2018Severo Ochoa\u2019 (CBMSO) CSIC\/UAM, Madrid 28049, Spain"},{"name":"Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid 28031, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9150-1315","authenticated-orcid":false,"given":"Jos\u00e9 Luis","family":"S\u00e1nchez-Trincado","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology \u2018Severo Ochoa\u2019 (CBMSO) CSIC\/UAM, Madrid 28049, Spain"},{"name":"Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid 28031, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Santos-Galindo","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology \u2018Severo Ochoa\u2019 (CBMSO) CSIC\/UAM, Madrid 28049, Spain"},{"name":"Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid 28031, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iv\u00f3 H","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology \u2018Severo Ochoa\u2019 (CBMSO) CSIC\/UAM, Madrid 28049, Spain"},{"name":"Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid 28031, Spain"},{"name":"Departamento de Biolog\u00eda, Facultad de Ciencias, Universidad Aut\u00f3noma de Madrid, Madrid 28049, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Pic\u00f3","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology \u2018Severo Ochoa\u2019 (CBMSO) CSIC\/UAM, Madrid 28049, Spain"},{"name":"Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid 28031, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan I","family":"D\u00edaz-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology \u2018Severo Ochoa\u2019 (CBMSO) CSIC\/UAM, Madrid 28049, Spain"},{"name":"Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid 28031, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5640-6542","authenticated-orcid":false,"given":"Ram\u00f3n","family":"Garc\u00eda-Escudero","sequence":"additional","affiliation":[{"name":"Molecular Oncology Unit, CIEMAT, Madrid 28040, Spain"},{"name":"Biomedical Research Institute i+12, Hospital 12 de Octubre, Madrid 28041, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC), Instituto de Salud Carlos III, Madrid 28029, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Irimia","sequence":"additional","affiliation":[{"name":"Centre for Genomic Regulation (CRG), Barcelona Institute for Science and Technology, 08003 Barcelona, Spain"},{"name":"Universitat Pompeu Fabra, 08003, Barcelona, Spain"},{"name":"ICREA, Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1597-3916","authenticated-orcid":false,"given":"Jos\u00e9 J","family":"Lucas","sequence":"additional","affiliation":[{"name":"Center for Molecular Biology \u2018Severo Ochoa\u2019 (CBMSO) CSIC\/UAM, Madrid 28049, Spain"},{"name":"Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid 28031, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,3,16]]},"reference":[{"issue":"1","key":"2021081715531759000_awab087-B1","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.tig.2018.10.002","article-title":"RNA splicing and disease: Animal models to therapies","volume":"35","author":"Montes","year":"2019","journal-title":"Trends 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