A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies - PubMed
4 hours ago
- #ciliopathies
- #EHD proteins
- #membrane trafficking
- EHD proteins are a conserved family of membrane-remodeling ATPases that regulate endocytic trafficking, membrane fission, and receptor recycling.
- Originally identified as regulators of endocytic recycling, their functions now include primary ciliogenesis, centrosome duplication, mitochondrial homeostasis, and lipid droplet biology.
- EHD dysfunction is linked to various human diseases, including metabolic disorders, cardiovascular issues, neurologic conditions, cancer, and ciliopathies.
- A recent EHD1 founder mutation has been directly linked to proteinuria, hearing loss, and polycystic kidney disease, providing genetic evidence for its role in human pathology.