Abdias Diaz‐Rosado

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.

The paper establishes a human cell model for TBCK syndrome, showing mitochondrial dysfunction and partial rescue with a fission inhibitor.