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The effect of carbamazepine on bone structure and strength in control and Osteogenesis Imperfecta ( <i>Col1a2</i> <sup> +/ <i>p.G610C</i> </sup> ) mice

2022-02-25

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 manipula...

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Literature Corpus work
be69a0ee-8aa9-5cc7-a60c-27a1bf3dae43
DOI
10.1101/2022.02.23.481692
Open publication

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The effect of carbamazepine on bone structure and strength in control and Osteogenesis Imperfecta ( <i>Col1a2</i> <sup> +/ <i>p.G610C</i> </sup> ) miceDOI 10.1101/2022.02.23.481692
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