Molecular Effects of Homocysteine on cbEGF Domain Structure: Insights into the Pathogenesis of Homocystinuria

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• 作者：Hutchinson ; Sarah ; Aplin ; Robin T. ; Webb ; Heather ; Kettle ; Susan ; Timmermans ; Janneke ; Boers ; Godfried H.J. ; et. al.
• 关键词：homocysteine ; cbEGF domains ; calcium binding ; fibrillin-1 ; Marfan syndrome ; MFS ; Marfan syndrome ; ECM ; extracellular matrix ; CBS ; cystathionine β ; -synthase ; CNS ; central nervous system ; CADASIL ; cerebral autosomal dominant arteriopathy with subcortica
• 刊名：Journal of Molecular Biology
• 出版年：2005
• 出版时间：February 25, 2005
• 年：2005
• 卷：346
• 期：3
• 页码：833-844
• 全文大小：385 K

文摘

Homocystinuria is an inborn error of methionine metabolism that results in raised serum levels of the highly reactive thiol-containing amino acid homocysteine. Homocystinurics often exhibit phenotypic abnormalities that are similar to those found in Marfan syndrome (MFS), a heritable connective tissue disorder that is caused by reduced levels of, or defects in, the cysteine-rich extracellular matrix (ECM) protein fibrillin-1. The phenotypic similarities between homocystinuria and MFS suggest that elevated homocysteine levels may result in an altered function of fibrillin-1.