Search Results - pcca

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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
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