Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

Journal of Inherited Metabolic Disease

Volumn 37, Issue 2, 2014, Pages 245-254

  Mendes, Marisa I S ^a,b   Colaço, Henrique G ^a   Smith, Desirée E C ^b   Ramos, Rúben J J F ^a   Pop, Ana ^b   Van Dooren, Silvy J M ^b   Tavares De Almeida, Isabel ^a   Kluijtmans, Leo A J ^c   Janssen, Mirian C H ^c   Rivera, Isabel ^a   Salomons, Gajja S ^b   Leandro, Paula ^a   Blom, Henk J ^b,d  

^a RESEARCH INSTITUTE FOR MEDICINES IMED ULISBOA   (Portugal)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYSTATHIONINE BETA SYNTHASE; MUTANT PROTEIN; RECOMBINANT PROTEIN; S ADENOSYLMETHIONINE; TETRAMER;

ALLELE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL LYSATE; CONTROLLED STUDY; ENZYME ACTIVITY; ESCHERICHIA COLI; FIBROBLAST; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HOMOCYSTINURIA; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MOLECULAR WEIGHT; MUTATIONAL ANALYSIS; NONHUMAN; PROTEIN QUATERNARY STRUCTURE; RETROSPECTIVE STUDY; WILD TYPE; CELL CULTURE; ENZYMOLOGY; GENETICS; METABOLISM; MUTATION; PATHOLOGY;

ALLELES; CELLS, CULTURED; CYSTATHIONINE BETA-SYNTHASE; ESCHERICHIA COLI; FIBROBLASTS; GENOTYPE; HOMOCYSTINURIA; HUMANS; MUTATION; RECOMBINANT PROTEINS; RETROSPECTIVE STUDIES; S-ADENOSYLMETHIONINE;

EID: 84898795692     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9647-6     Document Type: Article

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