Ximena Gómez-Maqueo

The paper compares the molecular and functional effects of a PACS1 variant (p.R203W) with complete PACS1 loss-of-function in iPSC-derived neurons, finding distinct phenotypes suggesting a non-loss-of-function mechanism.

This study identifies de novo PANX1 mutations in individuals with PMG and microcephaly, showing they disrupt glycosylation, increase ATP release, and alter cortical development through ion conductance and cell fate regulation.

This study examines how the PACS1 p.R203W variant affects the proteomic landscape of brain organoids, identifying dysregulated proteins and processes linked to neurodevelopmental disorders.