Publication
On the role of RNA binding proteins in polyglutamine diseases: from pathogenesis to therapeutics
| dc.contributor.author | Conceição, André | |
| dc.contributor.author | Koppenol, Rebekah | |
| dc.contributor.author | Nóbrega, Clévio | |
| dc.date.accessioned | 2023-11-30T14:46:07Z | |
| dc.date.available | 2023-11-30T14:46:07Z | |
| dc.date.issued | 2023 | |
| dc.description.abstract | Polyglutamine (polyQ) diseases are a group of different neurodegenerative disorders characterized by an abnormal expansion of the trinucleotide cytosine-adenine-guanine (CAG) within coding regions of each disease-associated gene. The abnormal expansion translates into a protein bearing an abnormally long tract of glutamines. The expanded proteins are prone to aggregate, promote aberrant interaction with other proteins and mRNAs and contribute to cellular pathway disruption (Matos et al., 2019). To date, nine different polyQ diseases are described, including among others, Huntington’s disease, and six different spinocerebellar ataxias (SCA). Patients affected by polyQ diseases, suffer a myriad of motor symptoms that include ataxia, dysphagia, tremors, dysarthria, and even dementia. Unfortunately, there is no cure nor treatment able to delay the disease and patients rely only on symptomatic and supportive treatments culminating in premature death (Takahashi et al., 2010). | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.doi | 10.4103/1673-5374.373711 | pt_PT |
| dc.identifier.eissn | 1876-7958 | |
| dc.identifier.uri | http://hdl.handle.net/10400.1/20179 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Medknow Publications | pt_PT |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-sa/4.0/ | pt_PT |
| dc.subject | RNA binding proteins | pt_PT |
| dc.subject | Polyglutamine diseases | pt_PT |
| dc.subject | Pathogenesis | pt_PT |
| dc.subject | Therapeutics | pt_PT |
| dc.title | On the role of RNA binding proteins in polyglutamine diseases: from pathogenesis to therapeutics | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 2696 | pt_PT |
| oaire.citation.issue | 12 | pt_PT |
| oaire.citation.startPage | 2695 | pt_PT |
| oaire.citation.title | Neural Regeneration Research | pt_PT |
| oaire.citation.volume | 18 | pt_PT |
| person.familyName | Vieira da Conceição | |
| person.familyName | Cavaco Koppenol | |
| person.familyName | Nóbrega | |
| person.givenName | André Filipe | |
| person.givenName | Rebekah | |
| person.givenName | Clévio | |
| person.identifier.ciencia-id | F710-8071-CA06 | |
| person.identifier.ciencia-id | 3411-D6AA-DA14 | |
| person.identifier.ciencia-id | C510-7F41-BAF8 | |
| person.identifier.orcid | 0000-0002-9348-3560 | |
| person.identifier.orcid | 0000-0002-8312-5292 | |
| person.identifier.rid | M-6047-2013 | |
| person.identifier.scopus-author-id | 24473454000 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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