A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment

Molecular Genetics and Metabolism

Volumn 101, Issue 2-3, 2010, Pages 153-162

  Maclean, Kenneth N ^a   Sikora, Jakub ^b   Kožich, Viktor ^b   Jiang, Hua ^a   Greiner, Lori S ^a   Kraus, Eva ^a   Krijt, Jakub ^b   Overdier, Katherine H ^a   Collard, Renata ^a   Brodsky, Gary L ^a   Meltesen, Lynne ^a   Crnic, Linda S ^a   Allen, Robert H ^c   Stabler, Sally P ^c   Elleder, Milan ^b   Rozen, Rima ^c   Patterson, David ^d   Kraus, Jan P ^a  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^c MONTREAL CHILDREN S HOSPITAL   (Canada)

^d UNIVERSITY OF DENVER   (United States)

Author keywords

Betaine; Coagulation; Cystathionine; Cystathionine beta synthase; Cystathionine gamma lyase; Homocysteine; Homocystinuria

Indexed keywords

BETAINE; CYSTATHIONINE; CYSTATHIONINE BETA SYNTHASE; CYSTATHIONINE GAMMA LYASE; CYSTEINE; HOMOCYSTEINE; METHIONINE; S ADENOSYLHOMOCYSTEINE; S ADENOSYLMETHIONINE; SERINE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CBS GENE; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; FATTY LIVER; GENE EXPRESSION; GENE INACTIVATION; HOMOCYSTINURIA; LIVER DISEASE; LIVER FIBROSIS; MENTAL DEFICIENCY; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; THROMBOEMBOLISM; TRANSGENE; TRANSGENIC MOUSE;

ANIMALS; BETAINE; BLOOD COAGULATION DISORDERS; CYSTATHIONINE; CYSTATHIONINE BETA-SYNTHASE; DISEASE MODELS, ANIMAL; FATTY LIVER; FIBROSIS; HOMOCYSTINURIA; MICE; MICE, TRANSGENIC;

MUS; MUS MUSCULUS;

EID: 77957223318     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.06.010     Document Type: Article

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