Diseases Due To Protein Misfolding And Destabilization Flashcards

1
Q

Phenylketonuria

A

Phenyl alanine hydroxylase

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2
Q

Gaucher’s disease

A

Glucosyl ceramidase

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3
Q

Cystic fibrosis

A

Cystic fibrosis transmembrane conductance regulator (CFTR)

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4
Q

Fabry disease

A

Alpha-galactosidase

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5
Q

Pompe’s disease

A

Acid alpha-glucosidase

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6
Q

Homocystinuria

A

Cystathionine beta-synthase

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