Matches in SemOpenAlex for { <https://semopenalex.org/work/W3003643924> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W3003643924 endingPage "S78" @default.
- W3003643924 startingPage "S77" @default.
- W3003643924 abstract "Phenylketonuria is an inborn error of metabolism caused by loss of function of the liver-expressed enzyme phenylalanine hydroxylase and is characterized by elevated systemic phenylalanine levels that are neurotoxic. Current therapies do not address the underlying genetic disease or restore the natural metabolic pathway resulting in the conversion of phenylalanine to tyrosine. A family of hepatotropic clade F adeno-associated viruses (AAVs) was isolated from human CD34+ hematopoietic stem cells (HSCs) and one (AAVHSC15) was utilized to deliver a vector to correct the phenylketonuria phenotype in Pahenu2 mice. The AAVHSC15 vector containing a codon-optimized form of the human phenylalanine hydroxylase cDNA was administered as a single intravenous dose to Pahenu2 mice maintained on a phenylalanine-containing normal chow diet. Optimization of the transgene resulted in a vector that produced a sustained reduction in serum phenylalanine and normalized tyrosine levels for the lifespan of Pahenu2 mice. Brain levels of phenylalanine and the downstream serotonin metabolite 5-hydroxyindoleacetic acid were restored. In addition, the coat color of treated mice darkened following treatment, indicating restoration of the phenylalanine metabolic pathway. Taken together, these data support the potential of an AAVHSC15-based gene therapy as an investigational therapeutic for phenylketonuria patients." @default.
- W3003643924 created "2020-02-07" @default.
- W3003643924 creator A5016812185 @default.
- W3003643924 creator A5023012960 @default.
- W3003643924 creator A5023286937 @default.
- W3003643924 creator A5025495005 @default.
- W3003643924 creator A5025607515 @default.
- W3003643924 creator A5032635874 @default.
- W3003643924 creator A5069180292 @default.
- W3003643924 creator A5077965340 @default.
- W3003643924 creator A5088212132 @default.
- W3003643924 creator A5091613879 @default.
- W3003643924 date "2020-02-01" @default.
- W3003643924 modified "2023-09-25" @default.
- W3003643924 title "First-in-human study of a liver-directed AAV gene therapy (FLT190) in Fabry disease" @default.
- W3003643924 doi "https://doi.org/10.1016/j.ymgme.2019.11.188" @default.
- W3003643924 hasPublicationYear "2020" @default.
- W3003643924 type Work @default.
- W3003643924 sameAs 3003643924 @default.
- W3003643924 citedByCount "4" @default.
- W3003643924 countsByYear W30036439242021 @default.
- W3003643924 countsByYear W30036439242022 @default.
- W3003643924 countsByYear W30036439242023 @default.
- W3003643924 crossrefType "journal-article" @default.
- W3003643924 hasAuthorship W3003643924A5016812185 @default.
- W3003643924 hasAuthorship W3003643924A5023012960 @default.
- W3003643924 hasAuthorship W3003643924A5023286937 @default.
- W3003643924 hasAuthorship W3003643924A5025495005 @default.
- W3003643924 hasAuthorship W3003643924A5025607515 @default.
- W3003643924 hasAuthorship W3003643924A5032635874 @default.
- W3003643924 hasAuthorship W3003643924A5069180292 @default.
- W3003643924 hasAuthorship W3003643924A5077965340 @default.
- W3003643924 hasAuthorship W3003643924A5088212132 @default.
- W3003643924 hasAuthorship W3003643924A5091613879 @default.
- W3003643924 hasConcept C102230213 @default.
- W3003643924 hasConcept C104317684 @default.
- W3003643924 hasConcept C111599444 @default.
- W3003643924 hasConcept C126322002 @default.
- W3003643924 hasConcept C132154277 @default.
- W3003643924 hasConcept C134018914 @default.
- W3003643924 hasConcept C159167319 @default.
- W3003643924 hasConcept C181199279 @default.
- W3003643924 hasConcept C207009774 @default.
- W3003643924 hasConcept C2776165026 @default.
- W3003643924 hasConcept C2776491826 @default.
- W3003643924 hasConcept C2777431362 @default.
- W3003643924 hasConcept C2779646400 @default.
- W3003643924 hasConcept C2908963387 @default.
- W3003643924 hasConcept C515207424 @default.
- W3003643924 hasConcept C55493867 @default.
- W3003643924 hasConcept C71924100 @default.
- W3003643924 hasConcept C86803240 @default.
- W3003643924 hasConceptScore W3003643924C102230213 @default.
- W3003643924 hasConceptScore W3003643924C104317684 @default.
- W3003643924 hasConceptScore W3003643924C111599444 @default.
- W3003643924 hasConceptScore W3003643924C126322002 @default.
- W3003643924 hasConceptScore W3003643924C132154277 @default.
- W3003643924 hasConceptScore W3003643924C134018914 @default.
- W3003643924 hasConceptScore W3003643924C159167319 @default.
- W3003643924 hasConceptScore W3003643924C181199279 @default.
- W3003643924 hasConceptScore W3003643924C207009774 @default.
- W3003643924 hasConceptScore W3003643924C2776165026 @default.
- W3003643924 hasConceptScore W3003643924C2776491826 @default.
- W3003643924 hasConceptScore W3003643924C2777431362 @default.
- W3003643924 hasConceptScore W3003643924C2779646400 @default.
- W3003643924 hasConceptScore W3003643924C2908963387 @default.
- W3003643924 hasConceptScore W3003643924C515207424 @default.
- W3003643924 hasConceptScore W3003643924C55493867 @default.
- W3003643924 hasConceptScore W3003643924C71924100 @default.
- W3003643924 hasConceptScore W3003643924C86803240 @default.
- W3003643924 hasIssue "2" @default.
- W3003643924 hasLocation W30036439241 @default.
- W3003643924 hasOpenAccess W3003643924 @default.
- W3003643924 hasPrimaryLocation W30036439241 @default.
- W3003643924 hasRelatedWork W1451322921 @default.
- W3003643924 hasRelatedWork W1994481004 @default.
- W3003643924 hasRelatedWork W2008245696 @default.
- W3003643924 hasRelatedWork W2056950207 @default.
- W3003643924 hasRelatedWork W3003643924 @default.
- W3003643924 hasRelatedWork W3135355916 @default.
- W3003643924 hasRelatedWork W4269565 @default.
- W3003643924 hasRelatedWork W4323348698 @default.
- W3003643924 hasRelatedWork W75288963 @default.
- W3003643924 hasRelatedWork W2121168866 @default.
- W3003643924 hasVolume "129" @default.
- W3003643924 isParatext "false" @default.
- W3003643924 isRetracted "false" @default.
- W3003643924 magId "3003643924" @default.
- W3003643924 workType "article" @default.