Article
Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism.
The Journal of clinical investigation - 2 Oct 2017
Mullan Lorna A, Mularczyk Ewa J, Kung Louise H, Forouhan Mitra, Wragg Jordan Ma, Goodacre Royston, Bateman John F, Swanton Eileithyia, Briggs Michael D, Boot-Handford Raymond P
Abstract excerpt
The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutations in type X collagen, which increase ER stress by inducing misfolding of the mutant protein and subsequently disrupting hypertrophic chondrocyte differentiation. Here, we show that carbamazepine (CBZ), an autophagy-stimulating drug that is clinically approved for the treatment of seizures and bipolar disease, reduced...
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