SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13091655
Abstract: Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which… read more here.
Keywords: gene; slc13a5 deficiency; deficiency disorder; genetics ... See more keywords
Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis
Sign Up to like & getrecommendations! Published in 2022 at "Metabolites"
DOI: 10.3390/metabo12040351
Abstract: 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… read more here.
Keywords: untargeted metabolomics; metabolomics slc13a5; slc13a5 deficiency; deficiency ... See more keywords