Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts

Abstract

Study of nine pathogenic CBS mutants using proteolytic techniques revealed for the first time subtle conformational changes of even mutants that exhibit normal activity and apparently normal oligomeric assembly.

Keywords

• alanine-glyoxylate aminotransferase
• intrasteric inhibition
• mild phenylketonuria
• structural insights
• missense mutations
• pulse proteolysis
• escherichia-coli
• catalytic core
• stability
• tetrahydrobiopterin