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

Bibliographic Details
Main Author: Duarte, Ana Joana
Publication Date: 2021
Other Authors: Ribeiro, Diogo, Moreira, Luciana, Amaral, Olga
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: http://hdl.handle.net/10400.18/8138
Summary: Homozygosity 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.
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spelling Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated modelsHuman GeneticsCell ModelUnverricht-LundborgiPSCDoenças GenéticasHomozygosity 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.Repositório Científico do Instituto Nacional de SaúdeDuarte, Ana JoanaRibeiro, DiogoMoreira, LucianaAmaral, Olga2022-07-09T15:29:56Z2021-11-182021-11-18T00:00:00Zconference objectinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10400.18/8138enginfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2025-02-26T14:28:53Zoai:repositorio.insa.pt:10400.18/8138Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T21:43:54.759429Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models
title Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models
spellingShingle Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models
Duarte, Ana Joana
Human Genetics
Cell Model
Unverricht-Lundborg
iPSC
Doenças Genéticas
title_short Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models
title_full Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models
title_fullStr Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models
title_full_unstemmed Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models
title_sort Can Cell-type specific variability be involved in a rare variant of Unverricht-Lundborg? Investigation with iPSC generated models
author Duarte, Ana Joana
author_facet Duarte, Ana Joana
Ribeiro, Diogo
Moreira, Luciana
Amaral, Olga
author_role author
author2 Ribeiro, Diogo
Moreira, Luciana
Amaral, Olga
author2_role author
author
author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Duarte, Ana Joana
Ribeiro, Diogo
Moreira, Luciana
Amaral, Olga
dc.subject.por.fl_str_mv Human Genetics
Cell Model
Unverricht-Lundborg
iPSC
Doenças Genéticas
topic Human Genetics
Cell Model
Unverricht-Lundborg
iPSC
Doenças Genéticas
description Homozygosity 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.
publishDate 2021
dc.date.none.fl_str_mv 2021-11-18
2021-11-18T00:00:00Z
2022-07-09T15:29:56Z
dc.type.driver.fl_str_mv conference object
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/8138
url http://hdl.handle.net/10400.18/8138
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
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