Inhibitors of fapp2 and uses thereof
AssigneeFondazione Telethon
InventorsRaffaele LA MONTAGNA, Maria Antonietta DE MATTEIS, Giovanni D'ANGELO
Life of this patent
Estimating the term…
Abstract
The present invention provides methods and compositions for reducing globotriaosylceramide (Gb3) accumulation and treating diseases, disorders or conditions associated with Gb3 accumulation based on inhibitors of phosphatidylinositol-4-phosphate adaptor-2 (FAPP2), including interfering oligonucleotides, for example, siRNAs, and small molecule compounds based inhibitors. The present invention is particularly useful in treating Fabry disease and other sphingolipidoses relating to sphingolipid metabolism, such as Gaucher's disease.
Claims33
(canceled)
(canceled)
A method of reducing globotrioaosylceramide (Gb3) accumulation in a cell, comprising administering to a cell having or susceptible to Gb3 accumulation an effective amount of an inhibitor of phosphatidylinositol-4-phosphate adaptor-2 (FAPP2).
A method of treating a disease, disorder or condition associated with globotrioaosylceramide (Gb3) accumulation, comprising administering to a subject in need of treatment an effective amount of an inhibitor of phosphatidylinositol-4-phosphate adaptor-2 (FAPP2).
(canceled)
A method to identify a phosphatidylinositol-4-phosphate adaptor-2 (FAPP2) inhibitor comprising:
- mixing acceptor vesicles, donor vesicles containing a fluorescent-labeled moiety, a quencher, and recombinant FAPP2 protein to form a mixture;
- and
- measuring the emission intensity of the mixture either in the presence or in the absence of an agent, wherein if the emission intensity is decreased in the presence of the agent, said agent is identified as a FAPP2 inhibitor.
Dependencies are inferred from the claim text.