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Article

Large-scale experimental assessment of variant effects on the structure and function of the citrate transporter SLC13A5

27 Jun 2025

Abstract excerpt

Citrate is an essential metabolite playing critical roles in metabolism and as a neuromodulator during cellular differentiation and development. Mutations in the human citrate transporter SLC13A5, highly expressed in neurons, have been associated with a debilitating form of epileptic encephalopathy. In this study, we used deep mutational scanning to reveal the effect of 90% of all possible single missense...

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PMID: 40577459
DOI: 10.1126/sciadv.adx3011

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