Matches in SemOpenAlex for { <https://semopenalex.org/work/W112200312> ?p ?o ?g. }
Showing items 1 to 63 of
63
with 100 items per page.
- W112200312 endingPage "9" @default.
- W112200312 startingPage "965" @default.
- W112200312 abstract "Infantile neuroaxonal dystrophy (INAD) is a severe neurodegenerative disease characterized by its early onset. PLA2G6, which encodes a phospholipase A2, iPLA₂β, has been identified as a causative gene of INAD. iPLA₂β has been shown to be involved in various physiological and pathological processes, including immunity, cell death, and cell membrane homeostasis. Gene targeted mice with a null mutation of Pla2g6 develop the INAD phenotype as late as approximately 1 to 2 years after birth. Recently, another INAD mouse model, Pla2g6-INAD mice line, has been established. The Pla2g6-INAD mice bear a point mutation in the ankyrin repeat domain of Pla2g6 generated by N-ethyl-N-nitrosourea mutagenesis. These mutant mice develop severe motor dysfunction and hematopoietic abnormality in a manner following Mendelian law. The mice showed the abnormal gait and poor performance as early as 7 to 8 weeks of age, detected by hanging grip test. Neuropathological examination revealed widespread formation of spheroids containing tubulovesicular membranes similar to human INAD. Molecular and biochemical analysis revealed that the mutant mice expressed Pla2g6 mRNA and protein, but the mutated Pla2g6 protein had no glycerophospholipid-catalyzing enzyme activity. When analyzed the offspring which bear Pla2g6 knockout allele and Pla2g6-INAD allele, abnormal gait appeared slightly later than Pla2g6-INAD homozygotes but with earlier onset than the Pla2g6 knockout homozygotes. This result suggests that mutant Pla2g6 protein contributes to early onset of INAD symptoms in the absence of intact Pla2g6 protein. The analysis of various INAD mouse models may help to understand the pathogenesis of neurodegenerative diseases, including INAD." @default.
- W112200312 created "2016-06-24" @default.
- W112200312 creator A5009124365 @default.
- W112200312 creator A5025136502 @default.
- W112200312 creator A5078219269 @default.
- W112200312 date "2013-08-01" @default.
- W112200312 modified "2023-09-27" @default.
- W112200312 title "Mouse models of human INAD by Pla2g6 deficiency." @default.
- W112200312 doi "https://doi.org/10.14670/hh-28.965" @default.
- W112200312 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23467909" @default.
- W112200312 hasPublicationYear "2013" @default.
- W112200312 type Work @default.
- W112200312 sameAs 112200312 @default.
- W112200312 citedByCount "4" @default.
- W112200312 countsByYear W1122003122015 @default.
- W112200312 countsByYear W1122003122016 @default.
- W112200312 countsByYear W1122003122017 @default.
- W112200312 countsByYear W1122003122020 @default.
- W112200312 crossrefType "journal-article" @default.
- W112200312 hasAuthorship W112200312A5009124365 @default.
- W112200312 hasAuthorship W112200312A5025136502 @default.
- W112200312 hasAuthorship W112200312A5078219269 @default.
- W112200312 hasConcept C104317684 @default.
- W112200312 hasConcept C127716648 @default.
- W112200312 hasConcept C143065580 @default.
- W112200312 hasConcept C180754005 @default.
- W112200312 hasConcept C203014093 @default.
- W112200312 hasConcept C2780942790 @default.
- W112200312 hasConcept C501734568 @default.
- W112200312 hasConcept C54355233 @default.
- W112200312 hasConcept C57708383 @default.
- W112200312 hasConcept C86803240 @default.
- W112200312 hasConceptScore W112200312C104317684 @default.
- W112200312 hasConceptScore W112200312C127716648 @default.
- W112200312 hasConceptScore W112200312C143065580 @default.
- W112200312 hasConceptScore W112200312C180754005 @default.
- W112200312 hasConceptScore W112200312C203014093 @default.
- W112200312 hasConceptScore W112200312C2780942790 @default.
- W112200312 hasConceptScore W112200312C501734568 @default.
- W112200312 hasConceptScore W112200312C54355233 @default.
- W112200312 hasConceptScore W112200312C57708383 @default.
- W112200312 hasConceptScore W112200312C86803240 @default.
- W112200312 hasIssue "8" @default.
- W112200312 hasLocation W1122003121 @default.
- W112200312 hasOpenAccess W112200312 @default.
- W112200312 hasPrimaryLocation W1122003121 @default.
- W112200312 hasRelatedWork W128021917 @default.
- W112200312 hasRelatedWork W1968643238 @default.
- W112200312 hasRelatedWork W2030205636 @default.
- W112200312 hasRelatedWork W2034103052 @default.
- W112200312 hasRelatedWork W2044992835 @default.
- W112200312 hasRelatedWork W2071476973 @default.
- W112200312 hasRelatedWork W2161012542 @default.
- W112200312 hasRelatedWork W2170498202 @default.
- W112200312 hasRelatedWork W29846343 @default.
- W112200312 hasRelatedWork W4239379028 @default.
- W112200312 hasVolume "28" @default.
- W112200312 isParatext "false" @default.
- W112200312 isRetracted "false" @default.
- W112200312 magId "112200312" @default.
- W112200312 workType "article" @default.