Technology ID

Alpha-galactosidase-A Knockout Mouse Model for Studying Fabry Disease

Lead Inventor
Ohshima, Toshio (National Institute of Dental and Craniofacial Research (NIDCR))
Kulkarni, Ashok (NIDCR)
Brady, Roscoe (National Institute of Neurological Disorders and Stroke)
Murray, Gary (National Institute on Alcohol Abuse and Alcoholism (NIAAA))
Research Materials
Therapeutic Areas
Metabolic Disease
Development Stages
Pre-clinical (in vivo)
Research Products
Animal Models
Lead IC

This technology includes an alpha-galactosidase-A knockout mouse model that can be used to study Fabry disease, an X-linked lysosomal storage disorder. Alpha-galactosidase-A is a crucial enzyme responsible for the breakdown of glycolipids, particularly globotriaosylceramide (Gb3), within lysosomes. In Fabry disease, a rare and inherited lysosomal storage disorder, mutations in the GLA gene lead to deficient or non-functional alpha-galactosidase-A enzyme activity. This enzymatic deficiency results in the progressive accumulation of Gb3 and related glycolipids in various cells and tissues, causing multisystemic manifestations such as renal dysfunction, cardiac abnormalities, neuropathic pain, and skin lesions. This invention, an alpha-galactosidase-A knockout mouse model, serves as a platform for preclinical trials, enabling the evaluation of novel enzyme replacement therapies, substrate reduction therapies, and gene therapy approaches.

Commercial Applications
Expedite the development of targeted interventions.

Competitive Advantages
Potential for wide variety of uses for therapeutic development.
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