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Endocrine/metabolic disease

Gaucher's disease

Receptor-interacting serine-threonine kinase 3 (RIPK3; RIP3)

Mouse studies suggest inhibiting RIPK3 could help treat forms of Gaucher's disease with neurological symptoms. Enzyme replacement therapy to restore glucocerebrosidase (GBA; GCase) does not treat neurological symptoms of the disease caused by neuron loss. In a genetic mouse model of Gaucher's disease with neurological symptoms, compared with littermates without the disease, Ripk3, which is involved in programmed necrosis, was upregulated in brains. In a mouse model of Gaucher's disease induced by an irreversible GCase inhibitor, Ripk3 knockout extended lifespan and improved motor coordination, and it decreased neuron loss compared with wild-type Ripk3 expression. Next steps include developing blood brain barrier-penetrant small molecule inhibitors of the RIPK3 pathway.

SciBX 7(5); doi:10.1038/scibx.2014.146
Published online Feb. 6, 2014

Provisional patent application filed in the U.S.; available for licensing

Vitner, E.B. et al. Nat. Med.; published online Jan. 19, 2014;
Contact: Anthony H. Futerman, Weizmann Institute of Science, Rehovot, Israel