Diseases Due To Protein Misfolding And Destabilization Flashcards
1
Q
Phenylketonuria
A
Phenyl alanine hydroxylase
2
Q
Gaucher’s disease
A
Glucosyl ceramidase
3
Q
Cystic fibrosis
A
Cystic fibrosis transmembrane conductance regulator (CFTR)
4
Q
Fabry disease
A
Alpha-galactosidase
5
Q
Pompe’s disease
A
Acid alpha-glucosidase
6
Q
Homocystinuria
A
Cystathionine beta-synthase