Loss of DDRGK1 impairs IRE1α UFMylation in spondyloepiphyseal dysplasia

Abstract excerpt

Spondyloepiphyseal dysplasia (SEMD) is a rare disease in which cartilage growth is disrupted, and the DDRGK1 mutation is one of the causative genes. In our study, we established Ddrgk1 fl/fl , Col2a1-ERT Cre mice, which showed a thickened hypertrophic zone (HZ) in the growth plate, simulating the previous reported SEMD pathology in vivo. Instead of the classical modulation mechanism towards SOX9, our further...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Autophagy in Disease and Therapy
• Share to Endoplasmic Reticulum Stress and Disease
• Share to Ubiquitin and proteasome pathways