Novel missense variants in PCK1 gene cause cytosolic PEPCK deficiency with growth failure from inadequate caloric intake
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-020-00823-8.pdf
Reference19 articles.
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2. Soty M, Gautier-Stein A, Rajas F, Mithieux G. Gut-brain glucose signaling in energy homeostasis. Cell Metab. 2017;25:1231–42.
3. Chourpiliadis C, Mohiuddin SS. Biochemistry, gluconeogenesis. Treasure Island, FL: StatPearls; 2020.
4. Beale EG, Harvey BJ, Forest C. PCK1 and PCK2 as candidate diabetes and obesity genes. Cell Biochem Biophys. 2007;48:89–95.
5. Mendez-Lucas A, Duarte JA, Sunny NE, Satapati S, He T, Fu X, et al. PEPCK-M expression in mouse liver potentiates, not replaces, PEPCK-C mediated gluconeogenesis. J Hepatol. 2013;59:105–13.
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