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Modification of the Structure and Function of Fibrillin-1 by Homocysteine Suggests a Potential Pathogenetic Mechanism in Homocystinuria
Journal of Biological Chemistry
Homocystinuria, a disorder originating in defects in the methionine metabolism, is characterized by an elevated plasma concentration of homocysteine. Most patients have a defect in the cystathionine-␤-synthase, the key enzyme in the conversion of homocysteine to cysteine. Many abnormalities in the connective tissue of patients with homocystinuria resemble those seen in Marfan syndrome, caused by mutations in fibrillin-1. These observations led to the hypothesis that the structure and functiondoi:10.1074/jbc.m504748200 pmid:16096271 fatcat:jmvae7mhyjdhbmwl6vnk6m5lmi