A Multi-Target Pharmacological Correction of a Lipoyltransferase <i>LIPT1</i> Gene Mutation in Patient-Derived Cellular Models

• Main Authors: David Gómez-Fernández (Author), Ana Romero-González (Author), Juan M. Suárez-Rivero (Author), Paula Cilleros-Holgado (Author), Mónica Álvarez-Córdoba (Author), Rocío Piñero-Pérez (Author), José Manuel Romero-Domínguez (Author), Diana Reche-López (Author), Alejandra López-Cabrera (Author), Salvador Ibáñez-Mico (Author), Marta Castro de Oliveira (Author), Andrés Rodríguez-Sacristán (Author), Susana González-Granero (Author), José Manuel García-Verdugo (Author), José A. Sánchez-Alcázar (Author)
• Format: Book
• Published: MDPI AG, 2024-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mutations in the <i>lipoyltransferase 1</i> (<i>LIPT1</i>) 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 mus...