Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors

Human Mutation

Volumn 34, Issue 8, 2013, Pages 1085-1093

  Gupta, Sapna ^a   Wang, Liqun ^a   Anderl, Janet ^b   Slifker, Michael J ^a   Kirk, Christopher ^b   Kruger, Warren D ^a  

^a FOX CHASE CANCER CENTER   (United States)

^b ONYX PHARMACEUTICALS   (United States)

Author keywords

Aminoaciduria; Chaperone; Genetic disease; Inborn error; Missense mutation

Indexed keywords

BORTEZOMIB; CYSTATHIONINE BETA SYNTHASE; HEAT SHOCK PROTEIN 27; HEAT SHOCK PROTEIN 40; HEAT SHOCK PROTEIN 70; HOMOCYSTEINE; OPROZOMIB;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BLOOD LEVEL; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; HOMOCYSTINURIA; MALE; MISSENSE MUTATION; MOUSE; MUTANT; NONHUMAN; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN HOMEOSTASIS;

AMINOACIDURIA; CHAPERONE; GENETIC DISEASE; INBORN ERROR; MISSENSE MUTATION;

ANIMALS; BORONIC ACIDS; CYSTATHIONINE BETA-SYNTHASE; FEMALE; HOMOCYSTINURIA; HUMANS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTATION, MISSENSE; OLIGOPEPTIDES; PROTEASOME INHIBITORS; PROTEIN FOLDING; PYRAZINES;

ANIMALIA; MUS;

EID: 84880506271     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22335     Document Type: Article

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