Claudia B. Gil

A zebrafish seizure model of cblX syndrome reveals a dose-dependent refractory response to mTor inhibition.

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.

Characterization of the zebrafish gabra1sa43718/sa43718 germline loss of function allele confirms a function for Gabra1 in motility and nervous system development.

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.

Abnormal chondrocyte intercalation in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.

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.