| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_59c6a921f33fe0adc58c2b6177184515 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2750-14143
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2810-854
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2810-40
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N2840-007 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-62
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K35-761
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-28
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Y603-02019
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-711
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N15-86
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N9-93
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K48-005
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K48-0058
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K48-0066 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-711
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12P19-34
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-85 |
| filingDate |
2018-06-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_517fc4c9ba2eb1cf50ded8350681335a
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3e346c7d2f5798b3908adc86f8752137 |
| publicationDate |
2020-03-06-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
CN-110869031-A |
| titleOfInvention |
Modified UBE3A Gene for Gene Therapy Approaches for Angelman Syndrome |
| abstract |
The present invention provides novel vectors, compositions and methods for treating neurological disorders characterized by defective UBE3A. The gene responsible for Angelman Syndrome (AS) has been found to be the UBE3A gene, which encodes the ubiquitin ligase E6‑AP. The unique feature of this gene is that it undergoes maternal imprinting in a neuron-specific manner. In most cases of AS, there is a mutation or deletion in the maternally inherited UBE3A gene, but other cases are the result of mismethylation of the maternal gene or uniparental disomy. UBE3A protein constructs were generated with additional sequences allowing secretion from cells and uptake by adjacent neuronal cells. This UBE3A vector can be used in gene therapy to confer functional E6‑AP protein into neurons and rescue disease pathology. |
| priorityDate |
2017-06-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |