Pathophysiological Mechanisms of Autosomal Dominant Congenital Stromal Corneal Dystrophy: C-Terminal–Truncated Decorin Results in Abnormal Matrix Assembly and Altered Expression of Small Leucine-Rich Proteoglycans

Autosomal-dominant congenital stromal corneal dystrophy (CSCD) is a human genetic disease characterized by corneal opacities beginning shortly after birth. It is linked to a frameshift mutation in decorin, resulting in a C-terminal truncation lacking 33 amino acids that includes the “ear” repeat, a...

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Detalhes bibliográficos
Main Authors: Chen, Shoujun, Sun, Mei, Meng, Xianmin, Iozzo, Renato V., Kao, Winston W.-Y., Birk, David E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2011
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3204084/
https://ncbi.nlm.nih.gov/pubmed/21893019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajpath.2011.07.026
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