Ashley J. Melendez-Perez

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 uses multi-omics analyses to show that TBCK deficiency disrupts ribosomal function, RNA splicing, and miRNA networks in TBCK-/- cells, providing insights into the molecular mechanisms of the disorder.

This study creates a mouse model of PMM2-CDG by selectively removing PMM2 from neural precursor cells, revealing cerebellar hypoplasia and ataxia, and showing molecular disturbances in the cerebellum that mirror human disease.