Cystathionine beta-Synthase Mutations: Effect of Mutation Topology on Folding and Activity

Abstract

The study of 27 mutant cystathionine beta-synthase variant revealed that misfolding is an important pathogenic mechanism in homocystinuria and that surface located mutations affect the function of the enzyme to a lesser degree than the buried mutations.

Keywords

• homocysteine
• cystathionine beta-synthase deficiency
• CBS
• homocystinuria
• folding
• misfolding
• topology
• E. coli
• pyridoxine-responsive homocystinuria
• molecular-basis
• missense mutations
• nonresponsive homocystinuria
• intrasteric inhibition
• structural insights
• gel electrophoresis
• birth prevalence
• deficiency
• patient