Search Results - propionic

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Synthetic Genes for the Treatment of Propionic Acidemia (PA) Caused by Mutations in Propionyl-coA Carboxylase Alpha (PCCA)
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either PCCA or PCCB. The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism of branched chain amino acids. NHGRI scientist have developed...
Published: 10/28/2024   |   Inventor(s): Randy Chandler, Charles Venditti
Keywords(s): Acidemia, ALPHA, Carbox, CAUSED, GENES, Lase, Mutations, PA, Pcca, Propionic, PropionylcoA, Synthetic, treatment, VPXXXX, WIXXXX, XEXXXX
Category(s): Application > Therapeutics, TherapeuticArea > Infectious Disease, TherapeuticArea > Cardiology, TherapeuticArea > Oncology, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Research Materials
Propionyl-CoA Carboxylase Beta (PCCB) Alleles in Propionic Acidemia (PA) mouse models
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either Propionyl-CoA carboxylase alpha (PCCA) or Propionyl-CoA carboxylase beta (PCCB). The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism...
Published: 10/28/2024   |   Inventor(s): Randy Chandler, Charles Venditti
Keywords(s): Acidemia, ALLELES, Beta, Carboxylase, PA, Pccb, Propionic, Propionyl-CoA, VPXXXX, WIXXXX, XEXXXX
Category(s): Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Ophthalmology, TherapeuticArea > Endocrinology, Application > Research Materials
Improved Propionyl-CoA Carboxylase Alpha (PCCA) Alleles in Mouse Models for the Study of Propionic Acidemia (PA) and its Potential Treatments
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either PCCA or PCCB. The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism of branched chain amino acids. NHGRI scientist have developed...
Published: 10/28/2024   |   Inventor(s): Stephanie Smith, Randy Chandler, Charles Venditti
Keywords(s): Acidemia, ALLELES, ALPHA, Carboxylase, Improved, PA, Pcca, Propionic, Propionyl-CoA, VPXXXX, WIXXXX
Category(s): TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental, Application > Research Materials
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