Article
Antisense Reduction of Mutant COMP Reduces Growth Plate Chondrocyte Pathology.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Mar 2017
Posey Karen L, Coustry Francoise, Veerisetty Alka C, Hossain Mohammad, Gattis Danielle, Booten Sheri, Alcorn Joseph L, Seth Punit P, Hecht Jacqueline T
Abstract excerpt
Mutations in cartilage oligomeric matrix protein cause pseudoachondroplasia, a severe disproportionate short stature disorder. Mutant cartilage oligomeric matrix protein produces massive intracellular retention of cartilage oligomeric matrix protein, stimulating ER and oxidative stresses and inflammation, culminating in post-natal loss of growth plate chondrocytes, which compromises linear bone growth. Treatments...
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