Article
The effect of carbamazepine on bone structure and strength in control and osteogenesis imperfecta (Col1a2 +/p.G610C ) mice.
Journal of cellular and molecular medicine - 1 Jul 2022
Blank Martha, McGregor Narelle E, Rowley Lynn, Kung Louise H W, Crimeen-Irwin Blessing, Poulton Ingrid J, Walker Emma C, Gooi Jonathan H, Lamandé Shireen R, Sims Natalie A, Bateman John F
Abstract excerpt
The inherited brittle bone disease osteogenesis imperfecta (OI) is commonly caused by COL1A1 and COL1A2 mutations that disrupt the collagen I triple helix. This causes intracellular endoplasmic reticulum (ER) retention of the misfolded collagen and can result in a pathological ER stress response. A therapeutic approach to reduce this toxic mutant load could be to stimulate mutant collagen degradation by...
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