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Generation of mutant mouse alleles that functionally disrupt production of BDNF from its ndividual promoters

This technology relates to a mouse model that improves an existing method of disrupting the production of the BDNF protein in specific parts of the brain. A current avenue of research seeks to examine how gene expression may effect long-lasting changes in the nervous system. Previous work has resulted in a mouse line in which the production of BDNF...

Published: 7/25/2024 | Inventor(s): Keri Martinowich

Keywords(s): ALLELES, AXXXXX, BDNF, DISRUPT, FUNCTIONALLY, Generation, Indiividual, Mouse, MUTANT, NC4XXX, NCXXXX, production, PROMOTERS, That, VEXXXX, WIXXXX, XEXXXX

Category(s): TherapeuticArea > Neurology, Application > Research Materials, Application > Therapeutics

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: 7/25/2024 | 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: 7/25/2024 | 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