Search Results - gaucher

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Longer-lived Mouse Models for Studying Gaucher Disease

The invention is a novel longer-lived mouse model for Gaucher disease. Gaucher disease is a genetic disorder that results from deficiencies in the enzyme glucocerebrosidase (GBA). The use of animal models to study how the disease progresses has been invaluable in research of this disorder. However, existing mouse models have been limited due to early...

Published: 7/25/2024 | Inventor(s): Mary Lamarca, Edward Ginns

Keywords(s): ANIMAL, DISORDERS, Gaucher, Gaucher Disease, Human, IDXXXX, Inherited, Models, RXXXXX, TRANSGENIC, VHXXXX, VPXXXX, WIXXXX, WJXXXX, WKXXXX, WMXXXX, XEXXXX

Category(s): Application > Research Materials, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Dental, TherapeuticArea > Infectious Disease, Application > Consumer Products, Application > Therapeutics, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology

Mouse Model Created Using Glucocerebrosidase-Deficient Neuronal Cell Line to Study Gaucher Disease Pathophysiology and Evaluate New Therapies

This technology includes a high-yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease (GD) to study pathophysiology and evaluate new therapies. GD is an autosomal recessive lysosomal storage disorder caused by loss-of function mutations in the GBA1 gene, which codes for...

Published: 7/25/2024 | Inventor(s): Matthew Nguyen, Wendy Westbroek, Nahid Tayebi, Ellen Sidransky

Keywords(s): Cell, DEFICIENT, Disease, Gaucher, GLUCOCEREBROSIDASE, Line, Model, Mouse, NEURONAL, VEXXXX, VPXXXX, WIXXXX, XEXXXX

Category(s): TherapeuticArea > Neurology, Application > Research Materials, TherapeuticArea > Dental, Application > Therapeutics, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Ophthalmology, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease

Fibroblast Cell Lines (with L444P/RecNci1 Genotype) for the Screening of Small Molecules for Gaucher Disease Treatment

This technology includes two human fibroblast cell lines to be used to study the defects in GBA1 gene and protein and to screen small molecules for involvement in Gaucher disease. Glucocerebrosidase (GBA1 or GCase or beta-glucosidase) is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide)....

Published: 7/25/2024 | Inventor(s): Barbara Stubblefield, Ellen Sidransky

Keywords(s): Cell, Fibroblast, Gaucher, Genotype, L44P/RecNci1, Lines, PATIENT, VPXXXX, WKXXXX, XHXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Ophthalmology, TherapeuticArea > Endocrinology, TherapeuticArea > Infectious Disease, TherapeuticArea > Cardiology, ResearchProducts > Research Equipment, TherapeuticArea > Dental, TherapeuticArea > Oncology

Glucocerebrosidase Activators as a Treatment for Gaucher Disease

This technology is a collection of small molecule activators of a genetically defective version of the enzyme called glucocerebrosidase (GCase), which causes Gaucher disease. Gaucher disease is a rare disease affecting 1 in 40,000 babies born. Ashkenazi Jews of eastern European descent (about 1 in 800 live births) are at particular risk of carrying...

Published: 7/25/2024 | Inventor(s): Noel Southall, Ehud Goldin, Wei Zheng, Samarjit Patnaik, Ellen Sidransky, Omid Motabar, Wendy Westbroek, Juan Marugan

Keywords(s): ACTIVATORS, Disease, Gaucher, GLUCOCEREBROSIDASE, IA1AXX, IA1XXX, IAXXXX, IB6XXX, IBXXXX, IXXXXX, treatment

Category(s): Collaboration Sought > Licensing, TherapeuticArea > Reproductive Health, Application > Research Materials, Application > Diagnostics, Application > Therapeutics, Application > Vaccines, TherapeuticArea > Cardiology