Kaitlin A. Katsura

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.

The paper uses a multimodal framework to reveal unique mineralization defects in a TBCK syndrome mouse model, identifying early-stage changes in enamel and dentin composition.

This paper uses an iPSC model of BLBS to show that the H3.3 L48R variant disrupts chromatin dynamics, neuronal differentiation, and electrophysiological function.

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 examines mechanical and chemical properties of developing enamel, dentin, and bone in mouse mandibles using multi-modal techniques and finds distinct patterns of changes driven by mineral composition.

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