Just like a car factory relies on inspectors to ensure that every vehicle is built correctly, cells depend on internal quality control systems to keep proteins functioning as they should. New research from Waisman Center investigator Luigi Puglielli, MD, PhD, professor of medicine at the University of Wisconsin-Madison, reveals that disruptions in one such system—the endoplasmic reticulum’s acetylation pathway—can lead to rare forms of autism and progeria, offering fresh insights into the cellular roots of these complex conditions.
Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.