Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome

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The mitochondrial citrate transporter, CIC, is essential for mitochondrial homeostasis.

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Mapping the deletion endpoints in individuals with 22q11.2 Deletion Syndrome by droplet digital PCR

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IDH1 Mutations Alter Citric Acid Cycle Metabolism and Increase Dependence on Oxidative Mitochondrial Metabolism

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Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

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Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome

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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

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D-2-hydroxyglutarate produced by mutant IDH1 perturbs collagen maturation and basement membrane function

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Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of α-Ketoglutarate-Dependent Dioxygenases

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Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

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Hypoxia promotes isocitrate dehydrogenase-dependent carboxylation of  -ketoglutarate to citrate to support cell growth and viability

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Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: Patterning, proliferation, and mitochondrial functions of 22q11 genes

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22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

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Citrate transport and metabolism in mammalian cells

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