Search Results - judith+fridovich-keil

3 Results Sort By:
A GALT-null Rat Model for Studies of Classic Galactosemia
Application Pre-clinical rodent model to study classic galactosemia disease. Key Benefits Identify striking differences in GALT-independent galactose metabolism among tissues and across post-natal time points. Study the relationship between galactose metabolite levels in blood and other tissues. Study the impact of rigorous galactose restriction...
Published: 7/30/2024   |   Inventor(s): Judith Fridovich-Keil
Keywords(s): Animal Model, Genetic Disorders
Category(s): TechPub Algolia > Research Tools
Whole-Animal Genetic Model to Mimic Aspects of the Patient Phenotype of Classic Galactosemia
­ Application An animal model for studying the underlying causes of galactosemia and screening for novel drugs to treat the condition. Key Benefits The first animal model for elucidating the underlying causes of galactosemia in infants. Animals with galactosemia causing genetic knockout exhibit similar disease phenotypes and complications...
Published: 7/30/2024   |   Inventor(s): Judith Fridovich-Keil
Keywords(s): Animal Model, Enzyme/Protein, Genetic Disorders, Metabolic Diseases, Rare/Orphan Diseases
Category(s): TechPub Algolia > Research Tools
Genetically Modified Cell Line With Selectively Impaired O-linked Glycosylation
ApplicationGenetically modified cell line which inhibits O-linked glycosylation and produces glycoproteins containing N-linked modifications.Key BenefitsModel system represents epimerase deficiency galactosemia, a variant form of galactosemia.Provides a means to study differing functional mechanisms of N- and O-linked glycosylation.Market SummaryGalactosemia,...
Published: 7/30/2024   |   Inventor(s): Judith Fridovich-Keil, Monty Krieger, Hazel Holden, James Thoden, Jennifer Schulz
Keywords(s): Cell Line
Category(s): TechPub Algolia > Research Tools