Utilize este identificador para referenciar este registo:
https://hdl.handle.net/1822/42783
Registo completo
Campo DC | Valor | Idioma |
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dc.contributor.author | Raposo, Mafalda | por |
dc.contributor.author | Bettencourt, Conceição | por |
dc.contributor.author | Maciel, P. | por |
dc.contributor.author | Gao, Fuying | por |
dc.contributor.author | Ramos, Amanda | por |
dc.contributor.author | Kazachkova, Nadiya | por |
dc.contributor.author | Vasconcelos, João | por |
dc.contributor.author | Kay, Teresa | por |
dc.contributor.author | Rodrigues, Ana João | por |
dc.contributor.author | Bettencourt, Bruno | por |
dc.contributor.author | Bruges-Armas, Jácome | por |
dc.contributor.author | Geschwind, Daniel | por |
dc.contributor.author | Coppola, Giovanni | por |
dc.contributor.author | Lima, Manuela | por |
dc.date.accessioned | 2016-10-13T14:05:13Z | - |
dc.date.available | 2016-10-13T14:05:13Z | - |
dc.date.issued | 2015 | - |
dc.identifier.issn | 0885-3185 | por |
dc.identifier.uri | https://hdl.handle.net/1822/42783 | - |
dc.description.abstract | BACKGROUND: Machado-Joseph disease (or spinocerebellar ataxia type 3) is a late-onset polyglutamine neurodegenerative disorder caused by a mutation in the ATXN3 gene, which encodes for the ubiquitously expressed protein ataxin-3. Previous studies on cell and animal models have suggested that mutated ataxin-3 is involved in transcriptional dysregulation. Starting with a whole-transcriptome profiling of peripheral blood samples from patients and controls, we aimed to confirm abnormal expression profiles in Machado-Joseph disease and to identify promising up-regulated genes as potential candidate biomarkers of disease status. METHODS: The Illumina Human V4-HT12 array was used to measure transcriptome-wide gene expression in peripheral blood samples from 12 patients and 12 controls. Technical validation and validation in an independent set of samples were performed by quantitative real-time polymerase chain reaction (PCR). RESULTS: Based on the results from the microarray, twenty six genes, found to be up-regulated in patients, were selected for technical validation by quantitative real-time PCR (validation rate of 81% for the up-regulation trend). Fourteen of these were further tested in an independent set of 42 patients and 35 controls; 10 genes maintained the up-regulation trend (FCGR3B, CSR2RA, CLC, TNFSF14, SLA, P2RY13, FPR2, SELPLG, YIPF6, and GPR96); FCGR3B, P2RY13, and SELPLG were significantly up-regulated in patients when compared with controls. CONCLUSIONS: Our findings support the hypothesis that mutated ataxin-3 is associated with transcription dysregulation, detectable in peripheral blood cells. Furthermore, this is the first report suggesting a pool of up-regulated genes in Machado-Joseph disease that may have the potential to be used for fine phenotyping of this disease. | por |
dc.description.sponsorship | Fundação para a Ciência e a Tecnologia (FCT) - project FCOMP-01-0124-FEDER-028753 (PTDC/DTP/PIC/0370/2012) | por |
dc.description.sponsorship | Operational Competitiveness Programme—COMPETE | por |
dc.description.sponsorship | UK Medical Research Council (MRC) | por |
dc.description.sponsorship | Fundação para a Ciência e a Tecnologia (FCT) - SFRH/BPD/33611/2009 | por |
dc.description.sponsorship | Fundo Regional para a Ciência (FRC), Governo dos Açores - M3.1.2/F/006/2011; M3.1.7/F/031/2011 ; M3.1.3/F/004/2009 | por |
dc.language.iso | eng | por |
dc.publisher | Wiley | por |
dc.relation | info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBPD%2F33611%2F2009/PT | por |
dc.relation | info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBPD%2F33611%2F2009/PT | - |
dc.rights | openAccess | por |
dc.subject | Spinocerebellar ataxia type 3 | por |
dc.subject | Polyglutamine disease | por |
dc.subject | Gene expression | por |
dc.subject | Ataxin-3 | por |
dc.subject | Microarray | por |
dc.title | Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease | por |
dc.type | article | - |
dc.peerreviewed | yes | por |
dc.relation.publisherversion | http://onlinelibrary.wiley.com | por |
sdum.publicationstatus | info:eu-repo/semantics/publishedVersion | por |
oaire.citationStartPage | 968 | por |
oaire.citationEndPage | 975 | por |
oaire.citationIssue | 7 | por |
oaire.citationTitle | Movement Disorders | por |
oaire.citationVolume | 30 | por |
dc.date.updated | 2016-10-13T11:07:05Z | - |
dc.identifier.doi | 10.1002/mds.26238 | por |
dc.identifier.pmid | 25914309 | por |
dc.subject.wos | Science & Technology | por |
sdum.journal | Movement Disorders | por |
Aparece nas coleções: | ICVS - Artigos em revistas internacionais / Papers in international journals |
Ficheiros deste registo:
Ficheiro | Descrição | Tamanho | Formato | |
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mds26238.pdf | 325,12 kB | Adobe PDF | Ver/Abrir |