RT Dissertation/Thesis
T1 Deciphering autism spectrum disorder genomic variation through the characterization of zebrafish and human stem cell-based models
A1 Veiga Rúa, Sara
K1 Neurodesarrollo
K1 TEA
K1 pez cebra
K1 hiPSCs
K1 CRISPR-Cas9
AB Autism Spectrum Disorders are characterized by behavioural,social, and communication impairments. Despite theirprevalence, the precise mechanisms underlying ASD are poorlyunderstood. This thesis is focused on developing suitablemodels to study the impact of mutations in three genes (BTBD8,FOSL2, and TAOK1) potentially associated with ASD. Invitro models were generated using human iPSCs that weredifferentiated into cortical neurons and human brain organoids,that were characterized through proteomics and scRNA-seq.Genes of interest were also studied in Danio rerio, toevaluate the morphological and behavioural consequences ofgene dysfunction. These models will be useful for improvingour understanding of the molecular mechanisms underlyingASD, but also for improving the diagnosis and treatment of thedisorder.
YR 2024
FD 2024
LK http://hdl.handle.net/10347/33975
UL http://hdl.handle.net/10347/33975
LA eng
DS Minerva
RD 9 jun 2026