Sofia B. Lizarraga

This study identifies ASH1L mutations causing a neurodevelopmental disorder with sex-specific effects on epilepsy and autism in mice and humans.

The paper investigates the molecular link between maternal inflammation and ASD by identifying a shared signature in human neurons exposed to IL-17A, suggesting DNA damage response defects contribute to ASD pathogenesis.

This study shows that ASH1L mutations disrupt chromatin regulation, leading to neuronal dysfunction and disease-related gene dysregulation, and identifies potential therapeutic strategies.

This study shows that VPA exposure alters chromatin environment, leading to changes in alternative splicing and gene expression in human cortical neurons, which may contribute to ASD pathogenesis.

This paper describes protocols to overcome ASH1L haploinsufficiency in stem cells, improving genome editing and neuronal differentiation efficiency.

The paper uses iPSC-derived neurons from Christianson syndrome patients to show allele-specific responses to rescue strategies, highlighting the need for personalized therapeutic approaches.

This study shows ASH1L regulates neuronal connectivity by modulating BDNF/TrkB signaling through its interaction with PRC2 in human neurons, linking ASH1L mutations to autism pathogenesis.

This study identifies DDX3 inhibition as a potential therapy for HAND by blocking Tat and cocaine-induced microglial activation and neurotoxicity in rat and mouse models.