Topic: pluripotency

The transcriptional co-activator Yes-associated protein-1 (YAP) and its paralog WW domain-containing transcription regulator 1 (WWTR1, TAZ) are known to regulate organ size, proliferation, and stem cell signaling in multiple tissue systems. However, their roles in nervous system development and neuronal differentiation have been understudied. Here, we set out to characterize YAP/TAZ expression changes and function in human neurogenesis in a cell lineage-specific and/or developmental stage-specific manner. To this end, YAP and TAZ knockouts were created in human embryonic stem cells using CRISP

C-terminal binding protein 1 (CTBP1) is a ubiquitously expressed transcriptional co-repressor protein that controls gene expression dependently of metabolic state of the cell. The recurrent mutation in the CTBP1 gene (CTBP1R331W) is associated with Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome (HADDTS). Our study aims to elucidate how CTBP1R331W contributes to the neurodevelopmental defects observed in HADDTS. Recent studies have identified aberrant cellular metabolism in the muscle tissue of HADDTS patients, yet the molecular link between metabolic dysfunction and n