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Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family

2016-08-20Journal article Restricted access
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dc.contributor.authorPinheiro, Ana
dc.contributor.authorSilva, Maria João
dc.contributor.authorPavlu-Pereira, Hana
dc.contributor.authorFlorindo, Cristina
dc.contributor.authorBarroso, Madalena
dc.contributor.authorMarques, Bárbara
dc.contributor.authorCorreia, Hildeberto
dc.contributor.authorOliveira, Anabela
dc.contributor.authorGaspare, Ana
dc.contributor.authorTavares de Almeida, Isabel
dc.contributor.authorIsabel Rivera, Isabel
dc.date.accessioned2016-09-20T14:19:14Z
dc.date.available2020-08-21T00:30:11Z
dc.date.issued2016-08-20
dc.description.abstractThis article presents a dataset proving the simultaneous presence of a 5′UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and brother). We have designed a large set of primer pairs in order to perform detailed RT-PCR assays allowing the clear identification of both PDHA1 and PDHA2 mRNA species in somatic cells. In addition, two different experimental approaches were used to elucidate the copy number of PDHA1 gene in the patient and her mother. The interpretation and discussion of these data, along with further extensive experiments concerning the origin of this altered gene expression and its potential therapeutic consequences, can be found in “Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells” (A. Pinheiro, M.J. Silva, C. Florindo, et al., 2016).pt_PT
dc.description.sponsorshipThis study was supported in part by grants from Fundação para a Ciência e a Tecnologia, Portugal (FCT): SFRH/BD/31264/2006 awarded to Ana Pinheiro, POCI/SAU-MMO/57052/2004 awarded to Isabel Rivera, and PEst-OE/SAU/UI4013/2013.pt_PT
dc.identifier.citationData in Brief. 2016;9:68-77. doi:10.1016/j.dib.2016.08.029pt_PT
dc.identifier.doi10.1016/j.dib.2016.08.029pt_PT
dc.identifier.issn2352-3409
dc.identifier.urihttp://hdl.handle.net/10400.18/3929
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S2352340916305303pt_PT
dc.subjectPyruvate dehydrogenasept_PT
dc.subjectComplex Gene Expressionpt_PT
dc.subjectTestis-specific Genept_PT
dc.subjectPDHA1 genept_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleData supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a familypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/POCI/POCI%2FSAU-MMO%2F57052%2F2004/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/5876/PEst-OE%2FSAU%2FUI4013%2F2014/PT
oaire.citation.endPage77pt_PT
oaire.citation.startPage68pt_PT
oaire.citation.titleData in Briefpt_PT
oaire.citation.volume9pt_PT
oaire.fundingStreamPOCI
oaire.fundingStream5876
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublication25187497-5115-4aca-b134-763784de2159
relation.isProjectOfPublicationc9ff07db-6fe7-4f77-b74c-12eb478486e6
relation.isProjectOfPublication.latestForDiscoveryc9ff07db-6fe7-4f77-b74c-12eb478486e6

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