Search Results - alleles

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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: 10/28/2024   |   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: 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