Aamir R. Zuberi

This study inserts a human RET haplotype into mice to model Hirschsprung disease, finding that regulatory variants reduce RET expression and contribute to disease.

This study shows that SOD1 trisomy disrupts ENS development and increases HSCR risk by reducing RET expression and altering glial states.

The paper investigates the molecular and cellular mechanisms of KCNQ2 encephalopathy through structural analysis, functional assays, and an animal model, revealing multiple pathogenic effects of the G256W variant.

This study investigates the effects of two common Atp1a3 mutations in mice, revealing distinct neurological phenotypes and potential therapeutic avenues for alternating hemiplegia of childhood.

This study creates a novel SCA13 mouse model with a R424H mutation, showing motor deficits, Purkinje cell loss, cerebellar inflammation, and atrophy, linking neuroinflammation to neurodegeneration.

This study demonstrates that in-utero restoration of KMT2A in a mouse model of WDSTS rescues neurological phenotypes, suggesting a therapeutic window during mid-gestation.

This paper develops a mouse model of ECHS1 deficiency and identifies valine metabolism and inflammation as drivers of epilepsy in the disease.

This study shows that loss of TDP-43 in brain endothelial cells causes blood-brain barrier defects in mouse models of ALS and FTD.