19 citations
,
July 2015 in “Journal of inherited metabolic disease” This study observed that while betaine supplementation decreases total homocysteine and increases methionine levels in a mouse model of CBS deficiency, it is not as effective as methionine restriction in reversing associated phenotypes.
28 citations
,
November 2013 in “The FASEB journal” In this study, a low-methionine diet significantly improved the health and physical traits of cystathionine β-synthase-deficient mice, contrasting with negative effects on mice with partial deficiency.
14 citations
,
November 2015 in “Annals of the New York Academy of Sciences” This review discusses dietary manipulation strategies in a mouse model of CBS deficiency and reports no new results; the authors emphasize the importance of understanding gene-diet interactions.
7 citations
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March 2022 in “The FASEB journal” This study observed that mice with a whole-body deficiency of Cystathionine-β-synthase developed severe hyperhomocysteinemia and related mild symptoms without increased mortality, indicating HHCy may not directly cause end organ damage.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.