...Duaa W. Al-Sadeq; Carolina Conter; Angelos Thanassoulas; Nader Al-Dewik; Bared Safieh-Garabedian; Luis Alfonso Martínez-Cruz; Gheyath K. Nasrallah; Alessandra Astegno; Michail Nomikos Homocystinuria is a rare disease caused by mutations in the CBS gene that results in a deficiency of cystathionine...

... are the major cause of inherited HCU (homocystinuria). In the present study we apply a novel approach based on a combination of calorimetric methods, functional assays and kinetic modelling to provide structural and energetic insight into the effects of SAM on the stability and activity of WT (wild-type) CBS...