RT Journal Article
T1 A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
A1 Quelle Regaldie, Ana
A1 Folgueira, Mónica
A1 Barreiro Iglesias, Antón
A1 Sobrido Gómez, María Jesús
A1 Sánchez Piñón, Laura
A1 Yáñez, Julián
A1 Sobrido Cameán, Daniel
A1 Alba González, Anabel
K1 Zebrafish
K1 Neurodegeneration
K1 Animal models
K1 Genetic edition
K1 Pez cebra
K1 Neurodegeneración
K1 Modelos animales
K1 Edición genética
K1 Peixe cebra
K1 Neurodexeneración
K1 Modelos animais
K1 Edición xenética
AB NOP56 belongs to a C/D box small nucleolar ribonucleoprotein complex that is in charge of cleavage and modification of precursor ribosomal RNAs and assembly of the 60S ribosomal subunit. An intronic expansion in NOP56 gene causes Spinocerebellar Ataxia type 36, a typical late-onset autosomal dominant ataxia. Although vertebrate animal models were created for the intronic expansion, none was studied for the loss of function of NOP56. We studied a zebrafish loss-of-function model of the nop56 gene which shows 70% homology with the human gene. We observed a severe neurodegenerative phenotype in nop56 mutants, characterized mainly by absence of cerebellum, reduced numbers of spinal cord neurons, high levels of apoptosis in the central nervous system (CNS) and impaired movement, resulting in death before 7 days post-fertilization. Gene expression of genes related to C/D box complex, balance and CNS development was impaired in nop56 mutants. In our study, we characterized the first NOP56 loss-of-function vertebrate model, which is important to further understand the role of NOP56 in CNS function and development
PB MDPI
YR 2022
FD 2022
LK http://hdl.handle.net/10347/32071
UL http://hdl.handle.net/10347/32071
LA eng
NO Quelle-Regaldie, A., Folgueira, M., Yáñez, J., Sobrido-Cameán, D., Alba-González, A., Barreiro-Iglesias, A., ... & Sánchez, L. (2022). A nop56 zebrafish loss-of-function model exhibits a severe neurodegenerative phenotype. Biomedicines, 10(8), 1814. https://doi.org/10.3390/biomedicines10081814
NO This research was funded by Fondo de Investigaciones Sanitarias-Instituto de Salud Carlos III (Spain), grant number: PI17/01582. Grant PID2020-115121GB-I00 funded by MCIN/AEI/10.13039/501100011033 to Laura Sánchez and Antón Barreiro-Iglesias. Anabel Alba-González is recipient of a Predoctoral Felloeship from Xunta de Galicia (Grant number ED481A-2019/003).
DS Minerva
RD 24 abr 2026