14 citations
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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.
3 citations
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January 2024 in “In Vivo” In this study, mice on a methionine-deficient diet experienced hair loss, which was not remedied by homocysteine supplementation; hair regrowth only resumed after methionine was reintroduced, suggesting dietary methionine is essential for hair maintenance.
19 citations
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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.
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.