| dc.contributor.author | Nóbrega, Clévio | |
| dc.contributor.author | Almeida, Luís Pereira de | |
| dc.contributor.editor | Nóbrega, Clévio | |
| dc.contributor.editor | Almeida, Luís Pereira de | |
| dc.date.accessioned | 2018-12-07T14:58:19Z | |
| dc.date.available | 2018-12-07T14:58:19Z | |
| dc.date.issued | 2018 | |
| dc.description.abstract | Polyglutamine (polyQ) diseases are a group of rare neurodegenerative disorders that share a common genetic cause: they arise as a result of abnormal expansions of CAG trinucleotide sequences occurring at particular genome loci. In contrast with other repeat-related disorders, the repeat-bearing tracts associated with polyQ diseases are present at the codifying region of genes, being translated as expanded polyQ tracts in their respective protein products. Although these genes and proteins are otherwise unrelated and share no significant homology outside the CAG/polyQ tract, proteins carrying an abnormally expanded polyQ tract tend to aggregate, forming insoluble protein aggregates that constitute a key neuropathological feature of polyQ disorders. The group currently includes nine disorders: Huntington’s disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinal and bulbar muscular atrophy (SBMA), and six different types of spinocerebellar ataxia: SCA 1, 2, 3, 6, 7, and 17. PolyQ diseases are highly incapacitating and, to this date, no therapy able to modify disease progression is available for any of them. | |
| dc.identifier.doi | 10.1007/978-3-319-71779-1 | |
| dc.identifier.isbn | 978-3-319-71779-1 | |
| dc.identifier.isbn | 978-3-319-71778-4 | |
| dc.identifier.issn | 0065-2598 | |
| dc.identifier.uri | http://hdl.handle.net/10400.1/11962 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.publisher | Springer Verlag | |
| dc.relation.ispartofseries | Advances in Experimental Medicine and Biology | |
| dc.title | Polyglutamine disorders preface | |
| dc.type | other | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | VI | |
| oaire.citation.startPage | V | |
| oaire.citation.title | Polyglutamine Disorders | |
| oaire.citation.volume | 1049 | |
| person.familyName | Nóbrega | |
| person.givenName | Clévio | |
| person.identifier.ciencia-id | C510-7F41-BAF8 | |
| person.identifier.orcid | 0000-0002-8312-5292 | |
| person.identifier.rid | M-6047-2013 | |
| person.identifier.scopus-author-id | 24473454000 | |
| rcaap.rights | openAccess | |
| rcaap.type | other | |
| relation.isAuthorOfPublication | 725ea6f8-1363-4cee-9cf2-5ac7303b3ba9 | |
| relation.isAuthorOfPublication.latestForDiscovery | 725ea6f8-1363-4cee-9cf2-5ac7303b3ba9 |
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