COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets.
Hum Mol Genet
; 21(R1): R97-110, 2012 Oct 15.
Article
de En
| MEDLINE
| ID: mdl-22914737
ABSTRACT
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.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Glaucome
/
Accident vasculaire cérébral
/
Collagène de type IV
/
Maladies musculaires
Limites:
Animals
/
Humans
Langue:
En
Journal:
Hum Mol Genet
Sujet du journal:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Année:
2012
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique