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filingDate 2006-06-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationDate 2009-03-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber JP-2009509913-A
titleOfInvention Treatment of CNS disorders associated with mutations in genes encoding lysosomal enzymes
abstract A method for treating an individual having a neurological disorder associated with a mutation in a gene encoding a lysosomal enzyme has been described. Specifically, a specific pharmacological chaperone of a lysosomal enzyme that increases the transport of the protein from the ER to the lysosome in a neuronal cell (and at the same time increases the enzymatic activity in the neuronal cell) Administered to an individual. Restoration of transport alleviates cellular stress and other toxicities associated with mutein accumulation. Restoration of enzyme activity alleviates substrate accumulation and pathologies associated with lipid accumulation. In certain embodiments, the neurological disorder is Parkinson's disease or parkinsonism associated with mutations in glucocerebrosidase. [Selection] Figure 1A
isCitedBy http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2016041741-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2013508371-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2011514152-A
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