Technology ID
TAB-3760
Mouse Model for the Study of Glycosphingolipid Storage Disorders
E-Numbers
E-146-2014-0
Lead Inventor
Proia, Richard (NIDDK)
Applications
Therapeutics
Research Materials
Therapeutic Areas
Ophthalmology
Oncology
Neurology
Infectious Disease
Endocrinology
Dental
Cardiology
Lead IC
NIDDK
ICs
NIDDK
This technology includes a conventional knockout mice: beta- 1,4-N-acetylgalactosaminyl transferase 1 (GM2 Synthase) KO; B4galntltm1Rlp for the study of glycosphingolipid storage disorders. The glycosphingolipid (GSL) storage diseases are caused by genetic disruption in the lysosomal degradation pathway of GSLs, and include Tay-Sachs disease, Sandhoff's disease, Gaucher's disease, Fabry's disease, Krabbe's disease, and several others. In most of these diseases, GSLs accumulate to massive levels in cells, particularly in neurons, causing neurodegeneration and a shortened life span.
Commercial Applications
Further work with this mouse model may lead to approved treatments of GSL storage diseases.
Competitive Advantages
There are currently no effective treatments for the majority of GSL storage disorders.
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