Search Results - carboxylase

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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