Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.

Maclean, Kenneth N; Jiang, Hua; Phinney, Whitney N; Mclagan, Bailey M; Roede, James R; Stabler, Sally P

Maclean, Kenneth N; Jiang, Hua; Phinney, Whitney N; Mclagan, Bailey M; Roede, James R; Stabler, Sally P.

Affiliation

Maclean KN; Departments of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA. Electronic address: ken.maclean@cuanschutz.edu.
Jiang H; Departments of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Phinney WN; Medicine and University of Colorado School of Medicine, Aurora, CO 80045, USA.
Mclagan BM; Departments of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Roede JR; Pharmaceutical Sciences, University of Colorado School of Medicine, Aurora, CO 80045, USA.
Stabler SP; Medicine and University of Colorado School of Medicine, Aurora, CO 80045, USA.

Mol Genet Metab ; 132(2): 128-138, 2021 02.

Article in En | MEDLINE | ID: mdl-33483253

Subject(s)

Cystathionine beta-Synthase/genetics; Homocystinuria/metabolism; Liver/metabolism; Methionine/metabolism; Adenosylhomocysteinase/genetics; Animals; Betaine/pharmacology; Cystathionine beta-Synthase/metabolism; Disease Models, Animal; Folic Acid/metabolism; Gene Expression Regulation, Enzymologic/drug effects; Glycine Hydroxymethyltransferase/genetics; Homocysteine/blood; Homocysteine/metabolism; Homocystinuria/drug therapy; Homocystinuria/genetics; Homocystinuria/pathology; Humans; Liver/enzymology; Methionine/analogs & derivatives; Methylenetetrahydrofolate Reductase (NADPH2)/genetics; Mice; Polyamines/metabolism

Key words

Cystathionine beta-synthase; Folate cycle; Homocysteine; Homocystinuria; Methionine cycle; Onecarbon metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cystathionine beta-Synthase / Homocystinuria / Liver / Methionine Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2021 Document type: Article Country of publication: United States

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