GeneticsCellsPeer-reviewed
A humanized yeast model for studying TRAPP complex mutations; proof-of-concept using variants from an individual with a TRAPPC1-associated neurodevelopmental syndrome
Erta Zykaj, Chelsea Abboud, Paria Asadi…·Michael G. Sacher
This study develops a humanized yeast model to study TRAPP complex mutations, showing that human TRAPPC1 variants cause secretion and autophagy defects in yeast, mirroring human fibroblast defects.
3 citations