Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models

Autism Spectrum Disorders are characterized by behavioural, social, and communication impairments. Despite their prevalence, the precise mechanisms underlying ASD are poorly understood. This thesis is focused on developing suitable models to study the impact of mutations in three genes (BTBD8, FOSL2...

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Detalles Bibliográficos
Autor: Veiga Rúa, Sara
Tipo de recurso: tesis doctoral
Fecha de publicación:2024
País:España
Institución:Universidad de Santiago de Compostela (USC)
Repositorio:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
Idioma:inglés
OAI Identifier:oai:minerva.usc.gal:10347/33975
Acceso en línea:http://hdl.handle.net/10347/33975
Access Level:acceso abierto
Palabra clave:240902 Ingeniería genética
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spelling Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based modelsVeiga Rúa, Sara240902 Ingeniería genéticaAutism Spectrum Disorders are characterized by behavioural, social, and communication impairments. Despite their prevalence, the precise mechanisms underlying ASD are poorly understood. This thesis is focused on developing suitable models to study the impact of mutations in three genes (BTBD8, FOSL2, and TAOK1) potentially associated with ASD. In vitro models were generated using human iPSCs that were differentiated into cortical neurons and human brain organoids, that were characterized through proteomics and scRNA-seq. Genes of interest were also studied in Danio rerio, to evaluate the morphological and behavioural consequences of gene dysfunction. These models will be useful for improving our understanding of the molecular mechanisms underlying ASD, but also for improving the diagnosis and treatment of the disorder.Sánchez Piñón, LauraAllegue Toscano, CatarinaUniversidade de Santiago de Compostela. Escola de Doutoramento Internacional (EDIUS)20242024-01-0120242024-01-01doctoral thesishttp://purl.org/coar/resource_type/c_db06info:eu-repo/semantics/doctoralThesisapplication/pdfhttp://hdl.handle.net/10347/33975reponame:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostelainstname:Universidad de Santiago de Compostela (USC)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Attribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:minerva.usc.gal:10347/339752026-06-15T12:47:27Z
dc.title.none.fl_str_mv Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
title Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
spellingShingle Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
Veiga Rúa, Sara
240902 Ingeniería genética
title_short Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
title_full Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
title_fullStr Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
title_full_unstemmed Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
title_sort Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
dc.creator.none.fl_str_mv Veiga Rúa, Sara
author Veiga Rúa, Sara
author_facet Veiga Rúa, Sara
author_role author
dc.contributor.none.fl_str_mv Sánchez Piñón, Laura
Allegue Toscano, Catarina
Universidade de Santiago de Compostela. Escola de Doutoramento Internacional (EDIUS)
dc.subject.none.fl_str_mv 240902 Ingeniería genética
topic 240902 Ingeniería genética
description Autism Spectrum Disorders are characterized by behavioural, social, and communication impairments. Despite their prevalence, the precise mechanisms underlying ASD are poorly understood. This thesis is focused on developing suitable models to study the impact of mutations in three genes (BTBD8, FOSL2, and TAOK1) potentially associated with ASD. In vitro models were generated using human iPSCs that were differentiated into cortical neurons and human brain organoids, that were characterized through proteomics and scRNA-seq. Genes of interest were also studied in Danio rerio, to evaluate the morphological and behavioural consequences of gene dysfunction. These models will be useful for improving our understanding of the molecular mechanisms underlying ASD, but also for improving the diagnosis and treatment of the disorder.
publishDate 2024
dc.date.none.fl_str_mv 2024
2024-01-01
2024
2024-01-01
dc.type.none.fl_str_mv doctoral thesis
http://purl.org/coar/resource_type/c_db06
dc.type.openaire.fl_str_mv info:eu-repo/semantics/doctoralThesis
format doctoralThesis
dc.identifier.none.fl_str_mv http://hdl.handle.net/10347/33975
url http://hdl.handle.net/10347/33975
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
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Attribution-NonCommercial-NoDerivatives 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname:Universidad de Santiago de Compostela (USC)
instname_str Universidad de Santiago de Compostela (USC)
reponame_str Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
collection Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
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