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Abstract #51149 Published in IGR 14-3
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets
Kuo DS; Labelle-Dumais C; Gould DBHuman Molecular Genetics 2012; 21: R97-110
Heterotrimers composed of collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) constitute one of the most abundant components of nearly all basement membranes. Accordingly, mutations in COL4A1 or COL4A2 are pleiotropic and contribute to a broad spectrum of disorders, including myopathy, glaucoma and hemorrhagic stroke. Here, we summarize the contributions of COL4A1 and COL4A2 mutations in human disease, integrate knowledge gained from model organisms and evaluate the implications for pathogenic mechanisms and therapeutic approaches.
Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA.
Full articleClassification:
1.3 Pathogenesis (Part of: 1 General aspects)
3.6 Cellular biology (Part of: 3 Laboratory methods)
