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Aberrant Post-translational Modifications (PTMs) in Methyl- and Propionic Acidemia and the Construction of a Novel Sirtuin (SIRT) Gene to Metabolize PTMs
Isolated Methylmalonic Acidemia (MMA) and the related disorder Propionic Acidemia (PA) comprise a relatively common and heterogeneous group of inborn errors of metabolism. NHGRI scientist discovered that in isolated MMA, a novel inhibitory PTM, methylmalonyllysine, is generated and inactivates protein targets through the failure of SIRT-mediated deacylation,...
Published: 10/28/2024   |   Inventor(s): PamelaSara Head, Charles Venditti
Keywords(s): Aberrant, Acidemia, Construction, Discovery, Ene, Metabolize, Methyl-, Modifications, Novel, Post-translational, Propionic, PTMs, Sirt, Sirtuin, VPXXXX, WIXXXX, WKXXXX, XEXXXX
Category(s): TherapeuticArea > Endocrinology, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology, Application > Therapeutics, TherapeuticArea > Infectious Disease, Application > Research Materials