Search Results - gaucher+disease

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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

Glucocerebrosidase Non-inhibitory Chaperones for the Treatment of Gaucher Disease, Parkinson's Disease, and Other Proteinopathies

Gaucher disease is a rare lysosomal storage disease that is characterized by a loss of function of the glucocerebrosidase (GCase) enzyme, which results in a decreased ability to degrade its lipid substrate, glucocerebroside. The intracellular build up of this lipid causes a broad range of clinical manifestations, ranging from enlarged spleen/liver...

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

Keywords(s): CHAPERONES, Gaucher Disease, GLUCOCEREBROSIDASE, IBXXXX, NB1BXX, NBXXXX, NON-INHIBITORY, Parkinson's Disease, proteinopathy, UAXXXX, VEXXXX, WKXXXX, YAXXXX, YBXXXX

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Neurology, TherapeuticArea > Rare / Neglected Diseases

A Mouse Model for Systemic Inflammation in Glucocerebrosidase-Deficient Mice with Minimal Glucosylceramide Storage

Gaucher disease, the most common lysosomal storage disease, is an inherited metabolic disorder in which harmful quantities of the lipid glucocerebroside accumulate in the spleen, liver, lungs, bone marrow and in rare cases in the brain, due to a deficiency of the enzyme glucocerebrosidase (Gba) that catalyses the first step in the biodegradation of...

Published: 4/8/2024 | Inventor(s): Richard Proia

Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, Gaucher Disease, Glucocerebrosidase deficiency; Gaucher Disease, HAD deficiency, HIS deficiency, Histidinemia, IDXXXX, IXXXXX, metabolic disorder

Category(s): Collaboration Sought > Licensing, Application > Diagnostics, Application > Research Materials, Application > Therapeutics