Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis

Though biallelic variants in <i>SLC13A5</i> are known to cause severe encephalopathy, the mechanism of this disease is poorly understood. SLC13A5 protein deficiency reduces citrate transport into the cell. Downstream abnormalities in fatty acid synthesis and energy generation have been d...

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Bibliographic Details
Main Authors: Sofia Milosavljevic, Kevin E. Glinton, Xiqi Li, Cláudia Medeiros, Patrick Gillespie, John R. Seavitt, Brett H. Graham, Sarah H. Elsea
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Metabolites
Subjects:
Online Access:https://www.mdpi.com/2218-1989/12/4/351