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While we could demonstrate evidence of L-carnitine deficiency and accumulation of -BB as direct consequences of gbh-1/BBOX1 deficiency, the absence of significant changes in other metabolites confirms that the loss of GBH-1 selectively impacts the L-carnitine biosynthesis pathway without significantly affecting other metabolic pathways in amino acid, nucleotide, and energy metabolism that are not dependent on L-carnitine (Fig

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Finally, in human pancreatic EndoCH1 cells, we performed a glucose-stimulated insulin secretion assay coupled to DOP activation by DII and OPRD1 overexpression

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