Predicate |
Object |
assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_17de79fbbbbbd4abed2106428f777b80 http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_61f88efcda59d7062a4252ecf6886f58 |
classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K38-00 |
classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Y504-99002 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N9-90 |
classificationIPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K38-00 |
classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H21-04 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K48-00 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-74 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N9-90 |
filingDate |
2016-03-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
grantDate |
2018-04-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_b2ef298b94a8ff50883f83723ead45bd http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_00474af3c0429d56390cc77084669184 |
publicationDate |
2018-04-17-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
publicationNumber |
US-9944918-B2 |
titleOfInvention |
Synthetic methylmalonyl-CoA mutase transgene for the treatment of MUT class methylmalonic acidemia (MMA) |
abstract |
Synthetic polynucleotides encoding human methylmalonyl-CoA mutase (synMUT) and exhibiting augmented expression in cell culture and/or in a subject are described herein. An adeno-associated viral (AAV) gene therapy vector encoding synMUT under the control of a liver-specific promoter (AAV2/8-HCR-hAAT-synMUT-RBG) successfully rescued the neonatal lethal phenotype displayed by methylmalonyl-CoA mutase-deficient mice, lowered circulating methylmalonic acid levels in the treated animals, and resulted in prolonged hepatic expression of the product of synMUT transgene in vivo, human methylmalonyl-CoA mutase (MUT). |
isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10894077-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/WO-2022061002-A1 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-11504337-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10307469-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10406112-B2 http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-10426738-B2 |
priorityDate |
2013-03-15-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
type |
http://data.epo.org/linked-data/def/patent/Publication |