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

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

Publikováno v: In Molecular Genetics and Metabolism February 2021 132(2):128-138

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Reduced methionine synthase expression results in uracil accumulation in mitochondrial DNA and impaired oxidative capacity.

Autor: Heyden KE; Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA., Fiddler JL; Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA., Xiu Y; Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA., Malysheva OV; Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA., Handzlik MK; Department of Bioengineering, University of California, La Jolla, San Diego, CA 92093, USA., Phinney WN; Department of Medicine, University of Colorado, Aurora, CO 80217, USA., Stiles L; Department of Medicine/Division of Endocrinology, University of California, Los Angeles, CA 90095, USA., Stabler SP; Department of Medicine, University of Colorado, Aurora, CO 80217, USA., Metallo CM; Department of Bioengineering, University of California, La Jolla, San Diego, CA 92093, USA.; Molecular and Cell Biology Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA., Caudill MA; Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA., Field MS; Division of Nutritional Sciences, Cornell University, Ithaca, NY 14853, USA.

Publikováno v: PNAS nexus [PNAS Nexus] 2023 Mar 27; Vol. 2 (4), pp. pgad105. Date of Electronic Publication: 2023 Mar 27 (Print Publication: 2023).