2022
DOI: 10.1016/j.jacbts.2021.12.007
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Nicotinamide Mononucleotide Alleviates Cardiomyopathy Phenotypes Caused by Short-Chain Enoyl-Coa Hydratase 1 Deficiency

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Cited by 35 publications
(27 citation statements)
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“… 4 These epigenetic changes increased the cardiomyocyte expression of hypertrophic genes such as Nppb and contributed to Echs1-associated cardiomyopathy in mouse models. In the present study, Cai et al 2 identified another new epigenetic mechanism of ECHS1 function in cardiac fibroblasts that modulates fibrotic gene expression and fibrosis.…”
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confidence: 58%
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“… 4 These epigenetic changes increased the cardiomyocyte expression of hypertrophic genes such as Nppb and contributed to Echs1-associated cardiomyopathy in mouse models. In the present study, Cai et al 2 identified another new epigenetic mechanism of ECHS1 function in cardiac fibroblasts that modulates fibrotic gene expression and fibrosis.…”
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confidence: 58%
“…Loss-of-function mutations of ECHS1 in humans cause a range of mild to severe symptoms that often include cardiomyopathy, but the underlying mechanisms are not well understood. In this issue of JACC: Basic to Translational Science , Cai et al 2 report a new mechanism for ECHS1 in epigenetic regulation of cardiac fibroblast gene expression and cardiac fibrosis ( Figure 1 ).
Figure 1 Cell Type–Specific Epigenetic Mechanisms for ECHS1 in Regulating Cardiac Gene Expression and Function In cardiomyocytes (left) , Echs1 haploinsufficiency (red arrow) results in elevated crotonyl-CoA levels and increases the expression of hypertrophic genes via histone crotonylation of H3K18 and H2BK12.
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