New therapeutic targets in rare genetic skeletal diseases

• Published in: Expert opinion on orphan drugs Vol. 3; no. 10; pp. 1137 - 1154
• Main Authors: Briggs, Michael D, Bell, Peter A, Wright, Michael J, Pirog, Katarzyna A
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare 03.10.2015
• Subjects: achondroplasia; cartilage; cell signalling; endoplasmic reticulum stress; genetic skeletal disease; multiple epiphyseal dysplasia; pseudoachondroplasia; skeletal dysplasia; pseudoachondroplasia; cell signalling; cartilage; achondroplasia; genetic skeletal disease; multiple epiphyseal dysplasia; endoplasmic reticulum stress; skeletal dysplasia

Introduction: Genetic skeletal diseases (GSDs) are a diverse and complex group of rare genetic conditions that affect the development and homeostasis of the skeleton. Although individually rare, as a group of related diseases, GSDs have an overall prevalence of at least 1 per 4,000 children. There a...