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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

dc.contributor.authorCorrea-Vela, M.
dc.contributor.authorLupo, V.
dc.contributor.authorMontpeyo, M.
dc.contributor.authorSancho, P.
dc.contributor.authorMarce-Grau, A.
dc.contributor.authorHernandez-Vara, J.
dc.contributor.authorDarling, A.
dc.contributor.authorJenkins, A.
dc.contributor.authorFernandez-Rodriguez, S.
dc.contributor.authorTello, C.
dc.contributor.authorRamirez-Jimenez, L.
dc.contributor.authorPerez, B.
dc.contributor.authorSanchez-Montanez, A.
dc.contributor.authorMacaya, A.
dc.contributor.authorSobrido Gómez, María Jesús 
dc.contributor.authorMartinez-Vicente, M.
dc.contributor.authorPerez-Duenas, B.
dc.contributor.authorEspinos, C.
dc.date.accessioned2022-04-29T10:26:34Z
dc.date.available2022-04-29T10:26:34Z
dc.date.issued2020
dc.identifier.issn2328-9503
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/32767480es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/16608
dc.description.abstractFBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). METHODS: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. RESULTS: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient's fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. CONCLUSION: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders.en
dc.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subject.meshF-Box Proteins*
dc.subject.meshConsanguinity*
dc.subject.meshAdult*
dc.subject.meshHumans*
dc.subject.meshEpilepsy*
dc.subject.meshYoung Adult*
dc.subject.meshProteasome Endopeptidase Complex*
dc.subject.meshSyndrome*
dc.subject.meshSpinocerebellar Degenerations*
dc.subject.meshParaplegia*
dc.titleImpaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defecten
dc.typeJournal Articlees
dc.authorsophosCorrea-Vela, M.;Lupo, V.;Montpeyo, M.;Sancho, P.;Marce-Grau, A.;Hernandez-Vara, J.;Darling, A.;Jenkins, A.;Fernandez-Rodriguez, S.;Tello, C.;Ramirez-Jimenez, L.;Perez, B.;Sanchez-Montanez, A.;Macaya, A.;Sobrido, M. J.;Martinez-Vicente, M.;Perez-Duenas, B.;Espinos, C.
dc.identifier.doi10.1002/acn3.51095
dc.identifier.pmid32767480
dc.identifier.sophos39608
dc.issue.number8es
dc.journal.titleANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGYes
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS)es
dc.page.initial1436es
dc.page.final1442 -es
dc.rights.accessRightsopenAccess
dc.subject.decscomplejo de endopeptidasas de los proteasomas*
dc.subject.decsconsanguinidad*
dc.subject.decsadulto joven*
dc.subject.decssíndrome*
dc.subject.decshumanos*
dc.subject.decsdegeneraciones espinocerebelosas*
dc.subject.decsproteínas F-box*
dc.subject.decsepilepsia*
dc.subject.decsadulto*
dc.subject.decsparaplejía*
dc.subject.keywordIDISes
dc.typefidesArtículo Originales
dc.typesophosArtículo Originales
dc.volume.number7es


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Ann Clin Transl Neurol. 2020 Aug;7(8):1436-1442

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