dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Martínez-Rubio, Dolores |
dc.contributor.author | Rodriguez-Prieto, Ángela |
dc.contributor.author | Sancho, Paula |
dc.contributor.author | Navarro-González, Carmen |
dc.contributor.author | Gorría-Redondo, Nerea |
dc.contributor.author | Miquel-Leal, Javier |
dc.contributor.author | Perez Dueñas, Belen |
dc.date.accessioned | 2022-11-28T11:44:37Z |
dc.date.available | 2022-11-28T11:44:37Z |
dc.date.issued | 2022-11-11 |
dc.identifier.citation | Martínez-Rubio D, Rodríguez-Prieto Á, Sancho P, Navarro-González C, Gorría-Redondo N, Miquel-Leal J, et al. Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3. Hum Mol Genet. Hum Mol Genet. 2022 Nov 11;31(22):3897-913. |
dc.identifier.issn | 1460-2083 |
dc.identifier.uri | https://hdl.handle.net/11351/8545 |
dc.description | Patogènesi; Atàxia; Mutacions |
dc.description.sponsorship | The Instituto de Salud Carlos III (ISCIII)—Subdirección General de Evaluación y Fomento de la Investigación within the framework of the National R + D + I Plan co-funded with European Regional Development Funds (ERDF) (grants PI18/00147 and PI21/00103 to C.E.); the Spanish Ministry of Economy and Competitiveness (grant SAF2017-89020-R to P.F.); the Fundació La Marató TV3 (grants 20143130 and 20143131 to B.P.-D. and C.E.) and the Generalitat Valenciana (grant PROMETEO/2018/135 to C.E.). Part of the equipment employed in this work was funded by Generalitat Valenciana and co-financed with ERDF (OP ERDF of Comunitat Valenciana 2014-2020). P.F. and A.R.-P. are supported by the Spanish Ministry of Science and Innovation (grants RyC-2014-16410 to P.F. and PRE2018-083562 to A.R.-P.). |
dc.language.iso | eng |
dc.publisher | Oxford University Press |
dc.relation.ispartofseries | Human Molecular Genetics;31(22) |
dc.rights | Attribution-NonCommercial 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/4.0/ |
dc.source | Scientia |
dc.subject | Atàxia - Aspectes genètics |
dc.subject | Cerebel - Degeneració |
dc.subject | Pediatria |
dc.subject.mesh | Ataxia |
dc.subject.mesh | /genetics |
dc.subject.mesh | Mitochondrial Proteins |
dc.subject.mesh | Spinocerebellar Degenerations |
dc.title | Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3 |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1093/hmg/ddac146 |
dc.subject.decs | ataxia |
dc.subject.decs | /genética |
dc.subject.decs | proteínas mitocondriales |
dc.subject.decs | degeneraciones espinocerebelosas |
dc.relation.publishversion | https://doi.org/10.1093/hmg/ddac146 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Martínez-Rubio D] Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. Joint Unit CIPF-IIS La Fe Rare Diseases, Valencia, Spain. [Rodríguez-Prieto Á, Navarro-González C, Miquel-Leal J] Cortical Circuits in Health and Disease Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. [Sancho P] Rare Neurodegenerative Diseases Laboratory, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. [Gorría-Redondo N] Pediatric Neurology Unit, Department of Pediatrics, Complejo Hospitalario de Navarra, Navarrabiomed, Pamplona, Spain. [Pérez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain |
dc.identifier.pmid | 35766882 |
dc.identifier.wos | 000833475300001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |