R. Collard

Misfolding of cystathionine beta-synthase impairs mitochondrial homeostasis and cellular bioenergetics.

Homocystinuria (HCU) is an inborn error of metabolism and a conformational disorder chiefly caused by the missense mutations in the cystathionine beta-synthase (CBS) gene. These mutations often cause CBS destabilization, misfolding and dysfunction resulting in CBS deficiency and pathological accumulation of homocystein...