Molecular and functional profiling distinguishes PACS1 syndrome variant from PACS1 loss-of-function in iNeurons
Annika L. Schroder, Ximena Gómez-Maqueo, Sean R Golinski, Claire M. Phoumyvong, Richard S. Smith, Alicia Guemez‐Gamboa
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.
bioRxiv · Sep 1, 2026 · PreprintNeuroscience