Topic: CtBP1

The C-terminal binding protein 1 (CtBP1) is a ubiquitously expressed, dual-function protein. In the nucleus, it nucleates corepressor complexes that control chromatin-modification and gene expression. In the cytoplasm, it regulates membrane trafficking processes by controlling the membrane fission reaction. Our previous study revealed an involvement of CtBP1 in the control of neural activity‐regulated genes such as BDNF, Arc and Fos in the mature brain. Recently, individuals with a missense mutation in CTBP1 have been reported to have intellectual disability and neurodevelopmental problems. Th

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