| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_1e7cfefd2209d318a6488c25eeba2eb8
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_9ea7efc96e2b6f3d9f0b0ef4f1d79f14 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-2835
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/Y02A90-10 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-194
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-14
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-08
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-16
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-34
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6876
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-6896
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-713
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-437
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-435
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-45
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-445
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P9-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-4745
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-28
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P43-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P21-00 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-44
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01N43-40
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01N43-52
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01N43-50
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01N43-42
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-415
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-435 |
| filingDate |
2011-01-07-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| grantDate |
2014-11-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_16386cd2df3058f8cea5daa7627fba4a |
| publicationDate |
2014-11-11-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-8883813-B2 |
| titleOfInvention |
Treatment of CNS disorders associated with mutations in genes encoding lysosomal enzymes |
| abstract |
Described is a method for treating an individual having a neurological disorder with an associated mutation or mutations in a gene encoding a lysosomal enzyme. Specifically, the individual is administered a specific pharmacological chaperone for the lysosomal enzyme which increases trafficking of the protein from the ER to the lysosome in neural cells, with or without concomitantly increasing enzyme activity in neural cells. Restoration of trafficking relieves cell stress and other toxicities associated with accumulation of mutant proteins. Restoration of enzyme activity relieves substrate accumulation and pathologies associated with lipid accumulation. In a specific embodiment, the neurological disorder is Parkinson's disease or parkinsonism which is associated with mutations in glucocerebrosidase. |
| priorityDate |
2005-06-08-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |