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From the disruption of RNA metabolism to the targeting of RNA‐binding proteins: the case of polyglutamine spinocerebellar ataxias

2023Journal article Restricted access
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dc.contributor.authorGomes, Tiago
dc.contributor.authorNóbrega, Clévio
dc.date.accessioned2024-01-03T10:56:52Z
dc.date.available2024-01-03T10:56:52Z
dc.date.issued2023
dc.description.abstractPolyglutamine spinocerebellar ataxias (PolyQ SCAs) represent a group of monogenetic diseases in which the expanded polyglutamine repeats give rise to a mutated protein. The abnormally expanded polyglutamine protein produces aggregates and toxic species, causing neuronal dysfunction and neuronal death. The main symptoms of these disorders include progressive ataxia, motor dysfunction, oculomotor impairment, and swallowing problems. Nowadays, the current treatments are restricted to symptomatic alleviation, and no existing therapeutic strategies can reduce or stop the disease progression. Even though the origin of these disorders has been associated with polyglutamine-induced toxicity, RNA toxicity has recently gained relevance in polyQ SCAs molecular pathogenesis. Therefore, the research's focus on RNA metabolism has been increasing, especially on RNA-binding proteins (RBPs). The present review summarizes RNA metabolism, exposing the different processes and the main RBPs involved. We also explore the mechanisms by which RBPs are dysregulated in PolyQ SCAs. Finally, possible therapies targeting the RNA metabolism are presented as strategies to reverse neuropathological anomalies and mitigate physical symptoms.pt_PT
dc.description.sponsorshipAlgarve Biomedical Center Research Institute, Grant/Award Number: #481; Viljem Julijan Association for Children with Rare Diseases, Grant/Award Number: AdvGT-CSBpt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.1111/jnc.16010pt_PT
dc.identifier.issn0022-3042
dc.identifier.urihttp://hdl.handle.net/10400.1/20252
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.subjectPolyglutamine spinocerebellar ataxiaspt_PT
dc.subjectRNA metabolismpt_PT
dc.subjectRNA-binding proteinspt_PT
dc.subjectTherapeutic strategiespt_PT
dc.titleFrom the disruption of RNA metabolism to the targeting of RNA‐binding proteins: the case of polyglutamine spinocerebellar ataxiaspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleJournal of Neurochemistrypt_PT
person.familyNameGomes
person.familyNameNóbrega
person.givenNameTiago
person.givenNameClévio
person.identifier.ciencia-idC510-7F41-BAF8
person.identifier.orcid0009-0004-9783-0058
person.identifier.orcid0000-0002-8312-5292
person.identifier.ridM-6047-2013
person.identifier.scopus-author-id24473454000
rcaap.rightsrestrictedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication6a75fd02-3a09-4684-94be-7bc639a1d4d6
relation.isAuthorOfPublication725ea6f8-1363-4cee-9cf2-5ac7303b3ba9
relation.isAuthorOfPublication.latestForDiscovery6a75fd02-3a09-4684-94be-7bc639a1d4d6

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