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Mouse Model of Pompe Disease for Therapy Discovery

This technology includes a mouse model of Pompe disease, created by targeted inactivation of the acid alpha-glucosidase gene, to test novel therapies. Pompe disease is a severe muscle disorder that affects people at any age. It is a rare genetic disease caused by a deficiency of a lysosomal enzyme acid alpha-glucosidase. The enzyme degrades glycogen...

Published: 7/30/2024 | Inventor(s): Nina Raben, Paul (Estate of) Plotz

Keywords(s):

Category(s): Application > Research Materials, Collaboration Sought > Licensing, Collaboration Sought > Materials Available, ResearchProducts > Animal Models, TherapeuticArea > Metabolic Disease

Modulating Autophagy as a Treatment for Lysosomal Storage Diseases

Researchers at NIAMS have developed a technology for treatment of lysosomal storage diseases by inhibition of autophagy. Pompe disease is an example of a genetic lysosomal storage disease caused by a reduction or absence of acid alpha-glucosidase (GAA). Patients with Pompe disease have a lysosomal buildup of glycogen in cardiac and skeletal muscle...

Published: 8/14/2024 | Inventor(s): Cynthia Schreiner, Paul (Estate of) Plotz, Shoichi Takikita, Tao Xie, Rebecca Baum, Nina Raben

Keywords(s): Acid, A-glucosidase, Autophagy, B, Clearance, Complete, DEFICIENCY, Disabling, Disease, Enzyme, ERT, GB1XXX, GBXXXX, Genetic, GLYCOGEN, GXXXXX, IBXXXX, Inactivation, IXXXXX, Lysosomal, Model, Mouse, MUSCLE, Near, Patent Category - Biotechnology, Permits, Pompe, REPLACEMENT, SKELETAL, Storage, STORED, THERAPY, UA1XXX

Category(s): Collaboration Sought > Collaboration, Application > Therapeutics, TherapeuticArea > Rare / Neglected Diseases, Application > Diagnostics, Application > Research Materials