Nayeli G. Reyes‐Nava

This study shows ODAD1 is essential for ODA-DC assembly in 9+0 and 9+2 cilia, causing left-right patterning and ciliary motility defects in ciliopathy.

The paper investigates the role of Lrrc56 in vertebrate multiciliated cells, showing it regulates outer dynein arm deployment through interaction with Odad3, linking LRRC56 mutations to primary ciliary dyskinesia.

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

The paper identifies a GABRA1 mutation in a patient with seizures, creates a zebrafish model to study its effects, and shows hypomotility and subunit expression defects.

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.