Ontology highlight
ABSTRACT:
SUBMITTER: Posey KL
PROVIDER: S-EPMC5363192 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Posey Karen L KL Coustry Francoise F Veerisetty Alka C AC Hossain Mohammad M Gattis Danielle D Booten Sheri S Alcorn Joseph L JL Seth Punit P PP Hecht Jacqueline T JT
Molecular therapy : the journal of the American Society of Gene Therapy 20170203 3
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 for pseudoachondroplasia are limited because cartilage is relatively avascular and ...[more]