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Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
dc.contributor.author | Todd, T. W. | |
dc.contributor.author | McEachin, Z. T. | |
dc.contributor.author | Chew, J. | |
dc.contributor.author | Burch, A. R. | |
dc.contributor.author | Jansen-West, K. | |
dc.contributor.author | Tong, J. M. | |
dc.contributor.author | Yue, M. | |
dc.contributor.author | Song, Y. P. | |
dc.contributor.author | Castanedes-Casey, M. | |
dc.contributor.author | Kurti, A. | |
dc.contributor.author | Dunmore, J. H. | |
dc.contributor.author | Fryer, J. D. | |
dc.contributor.author | Zhang, Y. J. | |
dc.contributor.author | San Millan Tejado, Beatriz | |
dc.contributor.author | Teijeira Bautista, Susana | |
dc.contributor.author | Arias Gómez, Manuel | |
dc.contributor.author | Dickson, D. | |
dc.contributor.author | Gendron, T. F. | |
dc.contributor.author | Sobrido Gómez, María Jesús | |
dc.contributor.author | Disney, M. D. | |
dc.contributor.author | Bassell, G. J. | |
dc.contributor.author | Rossoll, W. | |
dc.contributor.author | Petrucelli, L. | |
dc.date.accessioned | 2022-05-05T08:29:45Z | |
dc.date.available | 2022-05-05T08:29:45Z | |
dc.date.issued | 2020 | |
dc.identifier.issn | 2211-1247 | |
dc.identifier.other | https://www.ncbi.nlm.nih.gov/pubmed/32375043 | es |
dc.identifier.uri | http://hdl.handle.net/20.500.11940/16702 | |
dc.description.abstract | A 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.rights | Attribution-NonCommercial-NoDerivatives 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/4.0/ | |
dc.subject.mesh | Humans | * |
dc.subject.mesh | RNA | * |
dc.subject.mesh | Neurons | * |
dc.subject.mesh | Amyotrophic Lateral Sclerosis | * |
dc.subject.mesh | Mice | * |
dc.subject.mesh | Inclusion Bodies | * |
dc.subject.mesh | DNA Repeat Expansion | * |
dc.subject.mesh | Animals | * |
dc.subject.mesh | Frontotemporal Dementia | * |
dc.subject.mesh | Nuclear Proteins | * |
dc.title | Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo | en |
dc.type | Journal Article | es |
dc.authorsophos | Todd, 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.doi | 10.1016/j.celrep.2020.107616 | |
dc.identifier.pmid | 32375043 | |
dc.identifier.sophos | 40004 | |
dc.issue.number | 5 | es |
dc.journal.title | Cell Reports | es |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Neuroloxía | es |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Vigo - Complexo Hospitalario Universitario de Vigo::Anatomía Patolóxica | es |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS) | es |
dc.rights.accessRights | openAccess | |
dc.subject.decs | ARN | * |
dc.subject.decs | proteínas nucleares | * |
dc.subject.decs | neuronas | * |
dc.subject.decs | expansión de las repeticiones de ADN | * |
dc.subject.decs | animales | * |
dc.subject.decs | humanos | * |
dc.subject.decs | esclerosis lateral amiotrófica | * |
dc.subject.decs | cuerpos de inclusión | * |
dc.subject.decs | demencia frontotemporal | * |
dc.subject.decs | ratones | * |
dc.subject.keyword | CHUS | es |
dc.subject.keyword | CHUVI | es |
dc.subject.keyword | IDIS | es |
dc.typefides | Artículo Original | es |
dc.typesophos | Artículo Original | es |
dc.volume.number | 31 | es |