Brianna Ciesielski

This paper describes a novel mouse model of Bryant-Li-Bhoj Syndrome that recapitulates key developmental and behavioral phenotypes, providing a platform for therapeutic testing.

This study creates a mouse model of TBCK Syndrome by knocking out the Tbck gene, revealing early neurodevelopmental phenotypes and systemic alterations consistent with the human disorder.

This study shows that SNX14 deficiency causes cerebellar neurodegeneration through lipid metabolism defects and identifies a unique lipid metabolite profile linking acylcarnitine accumulation to neuronal loss.