Article

A Multi-target Pharmacological Correction of a Lipoyltransferase LIPT1 Gene Mutation in Patient-Derived Cellular Models

2024-07-22

Abstract excerpt

Mutations in the lipoyltransferase 1 (LIPT1) gene are rare inborn errors of metabolism leading to a fatal condition characterized by lipoylation defects of the 2-ketoacid dehydrogenase complexes causing early-onset seizures, psychomotor retardation, abnormal muscle tone, severe lactic aci-dosis and increased urine lactate, ketoglutarate, and 2-oxoacids levels. In this article, we characterized the disease pathophy...

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Literature Corpus work: 26b67858-4c0d-5778-ac27-77af86e7b425
DOI: 10.20944/preprints202407.1743.v1

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