Investigating neurodegenerative disease mechanisms using the zebrafish, Danio rerio
thesisposted on 03.09.2019, 05:12 authored by RITA JOANA SOARES SERRANO
Cerebellar ataxia and epileptic encephalopathies are two devastating disorders associated with the central nervous system. Many cases of these disorders are without a genetic diagnosis, indicating that additional genes remain to be identified. In this thesis, I evaluate two genes for their potential to cause cerebellar ataxia when mutated. The gene UBA5 has recently been identified to cause both epileptic encephalopathy and cerebellar ataxia when mutated, but the function of the gene in the nervous system is not understood. Therefore, I created a zebrafish model for this disease and determined how loss of this gene results in the symptoms observed.