Topic: cell fate determination

Huntington’s disease (HD) is a currently incurable neurodegenerative disorder that manifests itself through motor and cognitive symptoms due to a predominant loss of striatal projection neurons (SPNs) in the striatum. Although HD is a neurodegenerative disease, growing evidence show that developmental alterations could be a key factor in the disease, determining the future vulnerability of certain cell types, such as SPNs. Here we show an early HD-related gene expression pattern elucidated by bulk and single-cell RNA sequencing performed on wt and HD isolated mouse striatal primordia at differ

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