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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| 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 |
| Sumario: | 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. |
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