Dissecting the biological impact of GBA1 mutations using multi-omics in an isogenic setting
Pilar Álvarez Jerez, Peter Wild Crea, Dhairya Patel, Logan M. Glasstetter, Christiane Alvarez, Mary B. Makarious, Erika Lara, Yu Chen, Caroline B. Pantazis, Kimberly Paquette, Laksh Malik, Mike A. Nalls, Xylena Reed, Andrew Singleton, Kimberley J. Billingsley, , Cornelis Blauwendraat
The paper investigates the biological impact of GBA1 mutations using multi-omics in isogenic iPSC lines, finding limited overlapping results across cell types and suggesting RNA-based quantitation may not be optimal for characterizing GCase mechanisms.
bioRxiv · Jun 12, 2025 · PreprintGenomics