Search Results - methyl-

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High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders
Cobalamin C deficiency (cblC), caused by mutations in MMACHC, is the most common inborn error of intracellular vitamin B12 metabolism. NHGRI scientist have generated a number of Mmachc knockout mouse models. The cblC mice present with early lethality, recapitulate the neurological phenotype seen in patients, and have enabled proof of concept testing...
Published: 10/28/2024   |   Inventor(s): Jennifer Sloan, Eirini (Irini) Manoli, Charles Venditti
Keywords(s): C, Cobalamin, Combination, Concentration, DEFICIENCY, DISORDERS, High, Hydroxocobalamin, Me/OH-Cbl, Me-Cbl, Methyl-, Methylcobalamin, RELATED, treatment, VPXXXX, WKXXXX
Category(s): Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental
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