PROGRANULIN (PGRN) AND ITS DERIVATIVES FOR DIAGNOSIS AND TREATMENT OF LYSOSOMAL STORAGE DISEASES

摘要

The present invention provides composition and methods for diagnosis and treatment of lysosomal storage diseases and their diagnosis and treatment, including Gaucher's Disease and Tay-Sachs disease, and particularly which utilize progranulin (PGRN), or active PGRN peptides, including atsttrin. The invention also provides animal models of lysosomal storage diseases, including Gaucher's Disease and Tay-Sachs disease, based on or including PGRN mutations including PGRN null mutants and PGRN gene knock outs.

主权项

1. A composition for treatment or alleviation of a lysosomal storage disease comprising isolated PGRN, or active fragments thereof including atsttrin, wherein said PGRN or active fragment comprises an amino acid sequence as set out in any of FIG. 49 or 50.