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Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models

2021-11-18Conference object Open access
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dc.contributor.authorDuarte, Ana Joana
dc.contributor.authorRibeiro, Diogo
dc.contributor.authorMoreira, Luciana
dc.contributor.authorAmaral, Olga
dc.date.accessioned2022-07-09T15:29:56Z
dc.date.available2022-07-09T15:29:56Z
dc.date.issued2021-11-18
dc.descriptionWe thank the collaboration of colleagues who previously contributed to this work, as well as the ULD family; and INSA’s colleagues from DGH, particularly from the group of R&D/SApt_PT
dc.description.abstractHomozygosity for a private synonymous mutation in the cystatin-B gene (CSTB, MIM:601145; c.66G>A; p.Q22Q) was detected in a Portuguese patient with a rare, atypical form of Unverricht-Lundborg disease (ULD, MIM #254800). This apparently silent mutation leads to mis-splicing of CSTB pre-mRNA where a normal and an abnormal transcript were detected. Using iPSCs as a source of different cell types, we intend to clarify if the observed abnormal RNA splicing is cell-type specific, and to characterise the subsequent protein mislocalization. In conclusion, we hope to be able to contribute to the understanding of cell-type specific implications in the pathogenesis of ULD.pt_PT
dc.description.sponsorshipFCT - PTDC/BIM-MEC/4762/2014pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/8138
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectHuman Geneticspt_PT
dc.subjectCell Modelpt_PT
dc.subjectUnverricht-Lundborgpt_PT
dc.subjectiPSCpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCan Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated modelspt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FBIM-MEC%2F4762%2F2014/PT
oaire.citation.conferencePlacePorto, Portugal (online)pt_PT
oaire.citation.title25ª reunião anual da Sociedade Portuguesa de Genética Humana, 18-19 novembro 2021pt_PT
oaire.fundingStream3599-PPCDT
person.familyNameBorges Duarte
person.familyNameRibeiro
person.familyNameAmaral
person.givenNameAna Joana
person.givenNameDiogo
person.givenNameOlga
person.identifier.ciencia-id4F11-0EFD-0103
person.identifier.ciencia-idF713-02C6-1A87
person.identifier.ciencia-id6F1F-54A3-BBB9
person.identifier.orcid0000-0002-6774-4886
person.identifier.orcid0000-0002-4681-0354
person.identifier.orcid0000-0002-3478-2122
person.identifier.scopus-author-id7004054964
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
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