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dc.contributor.authorTodd, T. W.
dc.contributor.authorMcEachin, Z. T.
dc.contributor.authorChew, J.
dc.contributor.authorBurch, A. R.
dc.contributor.authorJansen-West, K.
dc.contributor.authorTong, J. M.
dc.contributor.authorYue, M.
dc.contributor.authorSong, Y. P.
dc.contributor.authorCastanedes-Casey, M.
dc.contributor.authorKurti, A.
dc.contributor.authorDunmore, J. H.
dc.contributor.authorFryer, J. D.
dc.contributor.authorZhang, Y. J.
dc.contributor.authorSan Millan Tejado, Beatriz 
dc.contributor.authorTeijeira Bautista, Susana 
dc.contributor.authorArias Gómez, Manuel 
dc.contributor.authorDickson, D.
dc.contributor.authorGendron, T. F.
dc.contributor.authorSobrido Gómez, María Jesús 
dc.contributor.authorDisney, M. D.
dc.contributor.authorBassell, G. J.
dc.contributor.authorRossoll, W.
dc.contributor.authorPetrucelli, L.
dc.date.accessioned2022-05-05T08:29:45Z
dc.date.available2022-05-05T08:29:45Z
dc.date.issued2020
dc.identifier.issn2211-1247
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/32375043es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/16702
dc.description.abstractA G4C2 hexanucleotide repeat expansion in an intron of C9orf72 is the most common cause of frontal temporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). A remarkably similar intronic TG3C2 repeat expansion is associated with spinocerebellar ataxia 36 (SCA36). Both expansions are widely expressed, form RNA foci, and can undergo repeat-associated non-ATG (RAN) translation to form similar dipeptide repeat proteins (DPRs). Yet, these diseases result in the degeneration of distinct subsets of neurons. We show that the expression of these repeat expansions in mice is sufficient to recapitulate the unique features of each disease, including this selective neuronal vulnerability. Furthermore, only the G4C2 repeat induces the formation of aberrant stress granules and pTDP-43 inclusions. Overall, our results demonstrate that the pathomechanisms responsible for each disease are intrinsic to the individual repeat sequence, highlighting the importance of sequence-specific RNA-mediated toxicity in each disorder.en
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.meshHumans*
dc.subject.meshRNA*
dc.subject.meshNeurons*
dc.subject.meshAmyotrophic Lateral Sclerosis*
dc.subject.meshMice*
dc.subject.meshInclusion Bodies*
dc.subject.meshDNA Repeat Expansion*
dc.subject.meshAnimals*
dc.subject.meshFrontotemporal Dementia*
dc.subject.meshNuclear Proteins*
dc.titleHexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivoen
dc.typeJournal Articlees
dc.authorsophosTodd, T. W.;McEachin, Z. T.;Chew, J.;Burch, A. R.;Jansen-West, K.;Tong, J. M.;Yue, M.;Song, Y. P.;Castanedes-Casey, M.;Kurti, A.;Dunmore, J. H.;Fryer, J. D.;Zhang, Y. J.;San Millan, B.;Bautista, S. T.;Arias, M.;Dickson, D.;Gendron, T. F.;Sobrido, M. J.;Disney, M. D.;Bassell, G. J.;Rossoll, W.;Petrucelli, L.
dc.identifier.doi10.1016/j.celrep.2020.107616
dc.identifier.pmid32375043
dc.identifier.sophos40004
dc.issue.number5es
dc.journal.titleCell Reportses
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Neuroloxíaes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Anatomía Patolóxicaes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS)es
dc.rights.accessRightsopenAccess
dc.subject.decsARN*
dc.subject.decsproteínas nucleares*
dc.subject.decsneuronas*
dc.subject.decsexpansión de las repeticiones de ADN*
dc.subject.decsanimales*
dc.subject.decshumanos*
dc.subject.decsesclerosis lateral amiotrófica*
dc.subject.decscuerpos de inclusión*
dc.subject.decsdemencia frontotemporal*
dc.subject.decsratones*
dc.subject.keywordCHUSes
dc.subject.keywordCHUVIes
dc.subject.keywordIDISes
dc.typefidesArtículo Originales
dc.typesophosArtículo Originales
dc.volume.number31es


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Attribution-NonCommercial-NoDerivatives 4.0 International
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