Matches in SemOpenAlex for { <https://semopenalex.org/work/W4366448892> ?p ?o ?g. }
- W4366448892 abstract "Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism. Current literature suggests that toxic catabolites in the brain are produced locally and do not cross the blood-brain barrier. In a series of experiments using knockout mice of the lysine catabolic pathway and liver cell transplantation, we uncovered that toxic GA-1 catabolites in the brain originated from the liver. Moreover, the characteristic brain and lethal phenotype of the GA-1 mouse model was rescued by two different liver-directed gene therapy approaches: Using an adeno-associated virus, we replaced the defective Gcdh gene or we prevented flux through the lysine degradation pathway by CRISPR deletion of the aminoadipate-semialdehyde synthase (Aass) gene. Our findings question the current pathophysiological understanding of GA-1 and reveal a targeted therapy for this devastating disorder." @default.
- W4366448892 created "2023-04-22" @default.
- W4366448892 creator A5001123347 @default.
- W4366448892 creator A5004146119 @default.
- W4366448892 creator A5008480476 @default.
- W4366448892 creator A5009129365 @default.
- W4366448892 creator A5016526298 @default.
- W4366448892 creator A5019219512 @default.
- W4366448892 creator A5020766248 @default.
- W4366448892 creator A5026333565 @default.
- W4366448892 creator A5031461674 @default.
- W4366448892 creator A5038374888 @default.
- W4366448892 creator A5039846981 @default.
- W4366448892 creator A5046853430 @default.
- W4366448892 creator A5049021093 @default.
- W4366448892 creator A5052568467 @default.
- W4366448892 creator A5069131165 @default.
- W4366448892 creator A5074550034 @default.
- W4366448892 creator A5086167006 @default.
- W4366448892 creator A5088907157 @default.
- W4366448892 creator A5090650583 @default.
- W4366448892 creator A5090945180 @default.
- W4366448892 creator A5028968528 @default.
- W4366448892 creator A5062080000 @default.
- W4366448892 date "2023-04-19" @default.
- W4366448892 modified "2023-10-11" @default.
- W4366448892 title "Rescue of glutaric aciduria type I in mice by liver-directed therapies" @default.
- W4366448892 cites W1533942137 @default.
- W4366448892 cites W1587210733 @default.
- W4366448892 cites W1594510603 @default.
- W4366448892 cites W2024444982 @default.
- W4366448892 cites W2035738053 @default.
- W4366448892 cites W2044332231 @default.
- W4366448892 cites W2070868766 @default.
- W4366448892 cites W2075953769 @default.
- W4366448892 cites W2076308591 @default.
- W4366448892 cites W2091935331 @default.
- W4366448892 cites W2116658403 @default.
- W4366448892 cites W2119535735 @default.
- W4366448892 cites W2147977804 @default.
- W4366448892 cites W2151270684 @default.
- W4366448892 cites W2154176979 @default.
- W4366448892 cites W2166477651 @default.
- W4366448892 cites W2264448154 @default.
- W4366448892 cites W2338950527 @default.
- W4366448892 cites W2411255162 @default.
- W4366448892 cites W2513580483 @default.
- W4366448892 cites W2520846352 @default.
- W4366448892 cites W2529860203 @default.
- W4366448892 cites W2613772376 @default.
- W4366448892 cites W2652420020 @default.
- W4366448892 cites W2914658811 @default.
- W4366448892 cites W3036502014 @default.
- W4366448892 cites W3088174141 @default.
- W4366448892 cites W3089421112 @default.
- W4366448892 cites W3091211386 @default.
- W4366448892 cites W3102945151 @default.
- W4366448892 cites W3138629243 @default.
- W4366448892 cites W4206979616 @default.
- W4366448892 cites W4303982751 @default.
- W4366448892 cites W44069025 @default.
- W4366448892 doi "https://doi.org/10.1126/scitranslmed.adf4086" @default.
- W4366448892 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37075130" @default.
- W4366448892 hasPublicationYear "2023" @default.
- W4366448892 type Work @default.
- W4366448892 citedByCount "3" @default.
- W4366448892 countsByYear W43664488922023 @default.
- W4366448892 crossrefType "journal-article" @default.
- W4366448892 hasAuthorship W4366448892A5001123347 @default.
- W4366448892 hasAuthorship W4366448892A5004146119 @default.
- W4366448892 hasAuthorship W4366448892A5008480476 @default.
- W4366448892 hasAuthorship W4366448892A5009129365 @default.
- W4366448892 hasAuthorship W4366448892A5016526298 @default.
- W4366448892 hasAuthorship W4366448892A5019219512 @default.
- W4366448892 hasAuthorship W4366448892A5020766248 @default.
- W4366448892 hasAuthorship W4366448892A5026333565 @default.
- W4366448892 hasAuthorship W4366448892A5028968528 @default.
- W4366448892 hasAuthorship W4366448892A5031461674 @default.
- W4366448892 hasAuthorship W4366448892A5038374888 @default.
- W4366448892 hasAuthorship W4366448892A5039846981 @default.
- W4366448892 hasAuthorship W4366448892A5046853430 @default.
- W4366448892 hasAuthorship W4366448892A5049021093 @default.
- W4366448892 hasAuthorship W4366448892A5052568467 @default.
- W4366448892 hasAuthorship W4366448892A5062080000 @default.
- W4366448892 hasAuthorship W4366448892A5069131165 @default.
- W4366448892 hasAuthorship W4366448892A5074550034 @default.
- W4366448892 hasAuthorship W4366448892A5086167006 @default.
- W4366448892 hasAuthorship W4366448892A5088907157 @default.
- W4366448892 hasAuthorship W4366448892A5090650583 @default.
- W4366448892 hasAuthorship W4366448892A5090945180 @default.
- W4366448892 hasBestOaLocation W43664488921 @default.
- W4366448892 hasConcept C104317684 @default.
- W4366448892 hasConcept C126322002 @default.
- W4366448892 hasConcept C127716648 @default.
- W4366448892 hasConcept C134018914 @default.
- W4366448892 hasConcept C2776016237 @default.
- W4366448892 hasConcept C2779609443 @default.
- W4366448892 hasConcept C2911091166 @default.
- W4366448892 hasConcept C515207424 @default.
- W4366448892 hasConcept C55493867 @default.