Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate

Journal of Inherited Metabolic Disease

Volumn 38, Issue 2, 2015, Pages 287-294

  Melenovská, Petra ^a   Kopecká, Jana ^a   Krijt, Jakub ^a   Hnízda, Aleš ^a   Raková, Kateřina ^a   Janošík, Miroslav ^a   Wilcken, Bridget ^b   Kožich, Viktor ^a  

^a General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c BARIA Ltd   (Czech Republic)

^d INSTITUTE OF ORGANIC CHEMISTRY AND BIOCHEMISTRY   (Czech Republic)

^e Binding Site Group Ltd   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 PHENYLBUTYRIC ACID; AMINOOXYACETIC ACID; CYSTATHIONINE BETA SYNTHASE; HEME ARGINATE; PYRIDOXINE; TETRAMER; ARGININE; CHAPERONE; HEME;

ANIMAL CELL; ARTICLE; CHO CELL LINE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME CONFORMATION; ESCHERICHIA COLI; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC VARIABILITY; HOMOCYSTINURIA; HUMAN; HUMAN CELL; NONHUMAN; POLYACRYLAMIDE GEL ELECTROPHORESIS; PROTEIN EXPRESSION; WESTERN BLOTTING; ANIMAL; CASE REPORT; CHEMICAL STRUCTURE; CRICETULUS; DRUG EFFECTS; ENZYME ACTIVE SITE; ENZYME SPECIFICITY; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEOSTASIS DEFICIENCIES; STRUCTURE ACTIVITY RELATION;

ANIMALS; ARGININE; CATALYTIC DOMAIN; CHO CELLS; CRICETULUS; CYSTATHIONINE BETA-SYNTHASE; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; HEME; HOMOCYSTINURIA; HOMOZYGOTE; HUMANS; MODELS, MOLECULAR; MOLECULAR CHAPERONES; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEOSTASIS DEFICIENCIES; STRUCTURE-ACTIVITY RELATIONSHIP; SUBSTRATE SPECIFICITY; TRANSFECTION;

EID: 84925504823     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9781-9     Document Type: Article

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