Open access
Aug 2026
Mice deficient for the OI-gene Kdelr2 display skeletal defects and ER stress attenuable by ascorbic acid
KDELR2 encodes a cis-Golgi membrane receptor that functions recycling endoplasmic reticulum (ER) proteins bearing a C-terminal KDEL-like sequence. Pathogenic variants in this gene have previously been associated with osteogenesis imperfecta (OI). Herein, we studied the phenotype of Kdelr2 -knockout mice both at...
J. A. Jiménez-Estrada, Carmen-Lisset Flores, Almudena Fernández et al.
· Scientific Reports · 0 citations