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

Though biallelic variants in SLC13A5 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 described, though bi...

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Detalles Bibliográficos
Autores principales: Milosavljevic, Sofia, Glinton, Kevin E., Li, Xiqi, Medeiros, Cláudia, Gillespie, Patrick, Seavitt, John R., Graham, Brett H., Elsea, Sarah H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032242/
https://www.ncbi.nlm.nih.gov/pubmed/35448538
http://dx.doi.org/10.3390/metabo12040351

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032242/
https://www.ncbi.nlm.nih.gov/pubmed/35448538
http://dx.doi.org/10.3390/metabo12040351

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