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Use este identificador para citar o ir al link de este elemento: http://hdl.handle.net/1843/61816
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Campo DCValorIdioma
dc.creatorLauren S. Vaughnpt_BR
dc.creatorKenneth Frederickpt_BR
dc.creatorSamuel B. Burnettpt_BR
dc.creatorNutan Sharmapt_BR
dc.creatorD. Cristopher Braggpt_BR
dc.creatorSarah Teixeira Camargospt_BR
dc.creatorFrancisco Cardosopt_BR
dc.creatorRekha C. Patelpt_BR
dc.date.accessioned2023-12-06T19:35:59Z-
dc.date.available2023-12-06T19:35:59Z-
dc.date.issued2022-
dc.citation.volume12pt_BR
dc.citation.issue5pt_BR
dc.identifier.doihttps://doi.org/10.3390/biom12050713pt_BR
dc.identifier.issn2218-273Xpt_BR
dc.identifier.urihttp://hdl.handle.net/1843/61816-
dc.description.resumoDYT-PRKRA (dystonia 16 or DYT-PRKRA) is caused by mutations in the PRKRA gene that encodes PACT, the protein activator of interferon (IFN)-induced double-stranded (ds) RNA-activated protein kinase (PKR). PACT participates in several cellular pathways, of which its role as a PKR activator protein during integrated stress response (ISR) is the best characterized. Previously, we have established that the DYT-PRKRA mutations cause enhanced activation of PKR during ISR to sensitize DYT-PRKRA cells to apoptosis. In this study, we evaluate if the most prevalent substitution mutation reported in DYT-PRKRA patients alters PACT’s functional role in induction of type I IFNs via the retinoic acid-inducible gene I (RIG-I) signaling. Our results indicate that the P222L mutation augments PACT’s ability to induce IFN β in response to dsRNA and the basal expression of IFN β and IFN-stimulated genes (ISGs) is higher in DYT-PRKRA patient cells compared to cells from the unaffected controls. Additionally, IFN β and ISGs are also induced at higher levels in DYT-PRKRA cells in response to dsRNA. These results offer a new avenue for investigations directed towards understanding the underlying molecular pathomechanisms in DYT-PRKRA.pt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentHCL - HOSPITAL DAS CLINICASpt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE CLÍNICA MÉDICApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofBiomoleculespt_BR
dc.rightsAcesso Abertopt_BR
dc.subjectDystoniapt_BR
dc.subjectDYT16pt_BR
dc.subjectDYT-PRKRApt_BR
dc.subjectPACTpt_BR
dc.subjectPRKRApt_BR
dc.subjectPKRpt_BR
dc.subjectInterferonpt_BR
dc.subjectRIG-Ipt_BR
dc.subject.otherDistoniapt_BR
dc.subject.otherReceptores de Interferonpt_BR
dc.subject.otherInterferon Tipo Ipt_BR
dc.titleDYT-PRKRA Mutation P222L Enhances PACT’s Stimulatory Activity on Type I Interferon Inductionpt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://www.mdpi.com/2218-273X/12/5/713pt_BR
dc.identifier.orcidhttps://orcid.org/0000-0003-2282-6738pt_BR
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