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.
Rare Disease
Alexander disease: A lifetime’s work in the hope of saving lives
Messing wanted to study if the overexpression of GFAP resulted in a certain reactive response in the brain.
Whole exome sequencing illuminates genetic condition
If you ask David Seamans what his favorite thing to do is, he’ll pause thoughtfully for a moment before responding, “Everything.” He really does mean everything
Scientists discover cause of aging-related disease in mice, then reverse its symptoms
In a study published in Aging Cell, researchers at the University of Wisconsin–Madison show that mice making too much of a human protein called AT-1 show signs of early aging and premature death, which are …
Rare disease research and treatment
A rare disease can be isolating when few people have it and there is no cure.