http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-03012040-A3
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_78587acbfc8d4c9e9ac3baa7021087d7 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_58f52de725a0cbb9de9b6446dc7375f9 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_993593498a833d0ea47257ebe743a412 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-158 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-172 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 |
| filingDate | 2002-07-12-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c6b20ef497cb89cb4b8f45b3cde9c436 http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_795283d707479cca2fe4fe40548388e1 |
| publicationDate | 2003-07-03-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | WO-03012040-A3 |
| titleOfInvention | Mutant nurr1 gene in parkinson's disease |
| abstract | The identification of mutation in NURR1 provides molecular tools for the development of diagnostic, prophylactic and therapeutic agents for Parkinson's Disease. In specific embodiments, two point mutations are identified in exon 1 of the NURR1 gene in 10/107 (9.3 %) cases of familial Parkinson's disease (PD). The mutations reduce NURR1 gene expression (mRNA and protein levels) by 87-95 % and decrease tyrosine hydroxylase (a rate-limited dopamine synthesis enzyme) gene expression in vitro. It is also demonstrated that in vivo NURR1 mRNA levels in the lymphocytes from the PD patients with the exon 1 mutation are reduced by 68-84 %, and in over 50 % sporadic PD patients the NURR1 mRNA levels in lymphocytes are significantly reduced. A homozygous polymorphism is identified in intron 6 of NURR1 that correlates with the presence of Parkinson's disease. A splicing variant in NURR1 exon 5 is identified. |
| priorityDate | 2001-07-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 28.