Victoria L. Castro

This study uses a zebrafish model of cblX syndrome to show that mTor inhibition at moderate doses reduces seizure severity, but higher doses cause a refractory response in hcfc1a mutants.

The paper characterizes a zebrafish gabra1 loss of function allele, showing decreased mRNA expression and seizure-like phenotypes, supporting previous findings on GABRA1's role in nervous system development.

The paper characterizes craniofacial defects in a zebrafish cblC model and shows that abnormal chondrocyte intercalation can be restored by wildtype or a cobalamin binding deficient MMACHC protein.

The paper investigates the effects of different HCFC1 mutations in zebrafish on mTor activity and radial glial cell phenotypes, revealing differential outcomes linked to mutation type.

The paper shows that activating WNT signaling rescues craniofacial defects in zebrafish with cholesterol metabolism defects caused by hmgcs1 mutations.

This study identifies mutations in the zebrafish hmgcs1 gene that impair cholesterol and isoprenoid synthesis, leading to reduced red blood cell development and GATA1 expression.