Modeling Rett syndrome with human patient-specific forebrain organoids
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2020 |
| Outros Autores: | , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10451/47246 |
Resumo: | Copyright © 2020 Gomes, Fernandes, Vaz, Silva, Bekman, Xapelli, Duarte, Ghazvini, Gribnau, Muotri, Trujillo, Sebastião, Cabral and Diogo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
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Modeling Rett syndrome with human patient-specific forebrain organoidsRett syndromeDisease modelingForebrainHuman induced pluripotent stem cellsNeurodevelopmental disordersOrganoidsCopyright © 2020 Gomes, Fernandes, Vaz, Silva, Bekman, Xapelli, Duarte, Ghazvini, Gribnau, Muotri, Trujillo, Sebastião, Cabral and Diogo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.Engineering brain organoids from human induced pluripotent stem cells (hiPSCs) is a powerful tool for modeling brain development and neurological disorders. Rett syndrome (RTT), a rare neurodevelopmental disorder, can greatly benefit from this technology, since it affects multiple neuronal subtypes in forebrain sub-regions. We have established dorsal and ventral forebrain organoids from control and RTT patient-specific hiPSCs recapitulating 3D organization and functional network complexity. Our data revealed a premature development of the deep-cortical layer, associated to the formation of TBR1 and CTIP2 neurons, and a lower expression of neural progenitor/proliferative cells in female RTT dorsal organoids. Moreover, calcium imaging and electrophysiology analysis demonstrated functional defects of RTT neurons. Additionally, assembly of RTT dorsal and ventral organoids revealed impairments of interneuron's migration. Overall, our models provide a better understanding of RTT during early stages of neural development, demonstrating a great potential for personalized diagnosis and drug screening.We also acknowledge financial support from Fundação para a Ciência e a Tecnologia (FCT), Portugal, through iBB, Institute for Bioengineering and Biosciences (UIDB/04565/2020) and from Programa Operacional Regional de Lisboa 2020 (Project No. 007317). AG was supported by FCT (PD/BD/128373/2017).FrontiersRepositório da Universidade de LisboaGomes, Ana RitaFernandes, Tiago G.Vaz, Sandra H.Silva, Teresa P.Bekman, EvgueniaXapelli, SaraDuarte, SofiaGhazvini, MehrnazGribnau, JoostMuotri, Alysson R.Trujillo, Cleber A.Sebastião, Ana MCabral, Joaquim M.S.Diogo, Maria Margarida2021-04-06T11:39:04Z20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/47246engFront Cell Dev Biol. 2020 Dec 10;8:610427.10.3389/fcell.2020.6104272296-634Xinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-11-20T18:05:31Zoai:repositorio.ul.pt:10451/47246Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-11-20T18:05:31Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Modeling Rett syndrome with human patient-specific forebrain organoids |
| title |
Modeling Rett syndrome with human patient-specific forebrain organoids |
| spellingShingle |
Modeling Rett syndrome with human patient-specific forebrain organoids Gomes, Ana Rita Rett syndrome Disease modeling Forebrain Human induced pluripotent stem cells Neurodevelopmental disorders Organoids |
| title_short |
Modeling Rett syndrome with human patient-specific forebrain organoids |
| title_full |
Modeling Rett syndrome with human patient-specific forebrain organoids |
| title_fullStr |
Modeling Rett syndrome with human patient-specific forebrain organoids |
| title_full_unstemmed |
Modeling Rett syndrome with human patient-specific forebrain organoids |
| title_sort |
Modeling Rett syndrome with human patient-specific forebrain organoids |
| author |
Gomes, Ana Rita |
| author_facet |
Gomes, Ana Rita Fernandes, Tiago G. Vaz, Sandra H. Silva, Teresa P. Bekman, Evguenia Xapelli, Sara Duarte, Sofia Ghazvini, Mehrnaz Gribnau, Joost Muotri, Alysson R. Trujillo, Cleber A. Sebastião, Ana M Cabral, Joaquim M.S. Diogo, Maria Margarida |
| author_role |
author |
| author2 |
Fernandes, Tiago G. Vaz, Sandra H. Silva, Teresa P. Bekman, Evguenia Xapelli, Sara Duarte, Sofia Ghazvini, Mehrnaz Gribnau, Joost Muotri, Alysson R. Trujillo, Cleber A. Sebastião, Ana M Cabral, Joaquim M.S. Diogo, Maria Margarida |
| author2_role |
author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Repositório da Universidade de Lisboa |
| dc.contributor.author.fl_str_mv |
Gomes, Ana Rita Fernandes, Tiago G. Vaz, Sandra H. Silva, Teresa P. Bekman, Evguenia Xapelli, Sara Duarte, Sofia Ghazvini, Mehrnaz Gribnau, Joost Muotri, Alysson R. Trujillo, Cleber A. Sebastião, Ana M Cabral, Joaquim M.S. Diogo, Maria Margarida |
| dc.subject.por.fl_str_mv |
Rett syndrome Disease modeling Forebrain Human induced pluripotent stem cells Neurodevelopmental disorders Organoids |
| topic |
Rett syndrome Disease modeling Forebrain Human induced pluripotent stem cells Neurodevelopmental disorders Organoids |
| description |
Copyright © 2020 Gomes, Fernandes, Vaz, Silva, Bekman, Xapelli, Duarte, Ghazvini, Gribnau, Muotri, Trujillo, Sebastião, Cabral and Diogo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
| publishDate |
2020 |
| dc.date.none.fl_str_mv |
2020 2020-01-01T00:00:00Z 2021-04-06T11:39:04Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10451/47246 |
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http://hdl.handle.net/10451/47246 |
| dc.language.iso.fl_str_mv |
eng |
| language |
eng |
| dc.relation.none.fl_str_mv |
Front Cell Dev Biol. 2020 Dec 10;8:610427. 10.3389/fcell.2020.610427 2296-634X |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Frontiers |
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Frontiers |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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mluisa.alvim@gmail.com |
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