RT Journal Article
T1 Zebrafish Models of Autosomal Dominant Ataxias
A1 Quelle Regaldie, Ana
A1 Sobrido Cameán, Daniel
A1 Barreiro Iglesias, Antón
A1 Sobrido Gómez, María Jesús
A1 Sánchez Piñón, Laura
K1 Zebrafish
K1 Hereditary dominant ataxias
K1 Spinocerebellar ataxias
K1 Expanded repeats
K1 X-fragile
K1 Neurodegenerative disorders
K1 Genetic edition
AB Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination. Despite many efforts put into the study of these diseases, there are no effective treatments yet. Zebrafish models are widely used to characterize neuronal disorders due to its conserved vertebrate genetics that easily support genetic edition and their optic transparency that allows observing the intact CNS and its connections. In addition, its small size and external fertilization help to develop high throughput assays of candidate drugs. Here, we discuss the contributions of zebrafish models to the study of dominant ataxias defining phenotypes, genetic function, behavior and possible treatments. In addition, we review the zebrafish models created for X-linked repeat expansion diseases X-fragile/fragile-X tremor ataxia. Most of the models reviewed here presented neuronal damage and locomotor deficits. However, there is a generalized lack of zebrafish adult heterozygous models and there are no knock-in zebrafish models available for these diseases. The models created for dominant ataxias helped to elucidate gene function and mechanisms that cause neuronal damage. In the future, the application of new genetic edition techniques would help to develop more accurate zebrafish models of dominant ataxias
PB MDPI
YR 2021
FD 2021
LK http://hdl.handle.net/10347/26108
UL http://hdl.handle.net/10347/26108
LA eng
NO Cells 2021, 10(2), 421; https://doi.org/10.3390/cells10020421
NO This research was funded by Fondo de Investigaciones Sanitarias-Instituto de Salud Carlos III (Spain), grant number: PI17/01582
DS Minerva
RD 24 abr 2026