FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2986001836> ?p ?o ?g. }

• W2986001836 endingPage "759" @default.
• W2986001836 startingPage "747" @default.
• W2986001836 abstract "Very-long-chain fatty acids, with a chain length of >C20, are abundant in myelin sphingolipids. Recently, a de novo mutation in the ELOVL1 gene, which encodes fatty acid elongase, was identified in patients with neurocutaneous disorders involving skin ichthyosis and multiple neurological abnormalities, including hypomyelination, spastic paraplegia, and high-frequency deafness. However, the consequences of ELOVL1 deficiency for lipid composition and detailed pathological changes in the brain remain unclear. Here, we analyzed Elovl1 mutant mice as a model of human ELOVL1 deficiency. The mice exhibited a decreased postnatal survival rate, and some died of startle epilepsy. The acyl chain length of sphingolipids such as galactosylceramides, sulfatides, sphingomyelins, and ceramides in the brains of these mice was markedly shortened. Moreover, the mice exhibited reduced levels of galactosylceramides, which are important for myelin formation and stability. Electron microscope analysis of the corpus callosum in Elovl1 mutant mice revealed modest hypomyelination, especially in large-diameter axons. Furthermore, behavioral testing of the mice revealed deficits such as poorer motor coordination and reduced acoustic startle response to high-intensity stimulus. These findings provide clues to the molecular mechanism of the neurological symptoms of patients with the ELOVL1 mutation." @default.
• W2986001836 created "2019-11-22" @default.
• W2986001836 creator A5017760891 @default.
• W2986001836 creator A5029159032 @default.
• W2986001836 creator A5029912301 @default.
• W2986001836 creator A5068790556 @default.
• W2986001836 creator A5086676643 @default.
• W2986001836 date "2019-11-22" @default.
• W2986001836 modified "2023-10-15" @default.
• W2986001836 title "Reduced chain length in myelin sphingolipids and poorer motor coordination in mice deficient in the fatty acid elongase<i>Elovl1</i>" @default.
• W2986001836 cites W1976329033 @default.
• W2986001836 cites W1990286006 @default.
• W2986001836 cites W1996149510 @default.
• W2986001836 cites W1998751401 @default.
• W2986001836 cites W1999919904 @default.
• W2986001836 cites W2009332633 @default.
• W2986001836 cites W2014581910 @default.
• W2986001836 cites W2021032365 @default.
• W2986001836 cites W2023802690 @default.
• W2986001836 cites W2028617079 @default.
• W2986001836 cites W2032443375 @default.
• W2986001836 cites W2045314917 @default.
• W2986001836 cites W2047899819 @default.
• W2986001836 cites W2058272150 @default.
• W2986001836 cites W2058449030 @default.
• W2986001836 cites W2067253037 @default.
• W2986001836 cites W2093354787 @default.
• W2986001836 cites W2098744846 @default.
• W2986001836 cites W2112583319 @default.
• W2986001836 cites W2132906575 @default.
• W2986001836 cites W2136675411 @default.
• W2986001836 cites W2140641606 @default.
• W2986001836 cites W2299440952 @default.
• W2986001836 cites W2324568579 @default.
• W2986001836 cites W2326298679 @default.
• W2986001836 cites W2402288042 @default.
• W2986001836 cites W2593698904 @default.
• W2986001836 cites W2785137851 @default.
• W2986001836 cites W2789611754 @default.
• W2986001836 cites W2885967980 @default.
• W2986001836 cites W2894619861 @default.
• W2986001836 cites W2902779682 @default.
• W2986001836 cites W4210985708 @default.
• W2986001836 doi "https://doi.org/10.1096/fba.2019-00067" @default.
• W2986001836 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6996318" @default.
• W2986001836 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32123819" @default.
• W2986001836 hasPublicationYear "2019" @default.
• W2986001836 type Work @default.
• W2986001836 sameAs 2986001836 @default.
• W2986001836 citedByCount "14" @default.
• W2986001836 countsByYear W29860018362020 @default.
• W2986001836 countsByYear W29860018362021 @default.
• W2986001836 countsByYear W29860018362022 @default.
• W2986001836 countsByYear W29860018362023 @default.
• W2986001836 crossrefType "journal-article" @default.
• W2986001836 hasAuthorship W2986001836A5017760891 @default.
• W2986001836 hasAuthorship W2986001836A5029159032 @default.
• W2986001836 hasAuthorship W2986001836A5029912301 @default.
• W2986001836 hasAuthorship W2986001836A5068790556 @default.
• W2986001836 hasAuthorship W2986001836A5086676643 @default.
• W2986001836 hasBestOaLocation W29860018361 @default.
• W2986001836 hasConcept C104317684 @default.
• W2986001836 hasConcept C126322002 @default.
• W2986001836 hasConcept C134018914 @default.
• W2986001836 hasConcept C143065580 @default.
• W2986001836 hasConcept C185592680 @default.
• W2986001836 hasConcept C2776100374 @default.
• W2986001836 hasConcept C2778163477 @default.
• W2986001836 hasConcept C2778609137 @default.
• W2986001836 hasConcept C2779134260 @default.
• W2986001836 hasConcept C529278444 @default.
• W2986001836 hasConcept C54355233 @default.
• W2986001836 hasConcept C55493867 @default.
• W2986001836 hasConcept C61322309 @default.
• W2986001836 hasConcept C61705674 @default.
• W2986001836 hasConcept C71924100 @default.
• W2986001836 hasConcept C86803240 @default.
• W2986001836 hasConceptScore W2986001836C104317684 @default.
• W2986001836 hasConceptScore W2986001836C126322002 @default.
• W2986001836 hasConceptScore W2986001836C134018914 @default.
• W2986001836 hasConceptScore W2986001836C143065580 @default.
• W2986001836 hasConceptScore W2986001836C185592680 @default.
• W2986001836 hasConceptScore W2986001836C2776100374 @default.
• W2986001836 hasConceptScore W2986001836C2778163477 @default.
• W2986001836 hasConceptScore W2986001836C2778609137 @default.
• W2986001836 hasConceptScore W2986001836C2779134260 @default.
• W2986001836 hasConceptScore W2986001836C529278444 @default.
• W2986001836 hasConceptScore W2986001836C54355233 @default.
• W2986001836 hasConceptScore W2986001836C55493867 @default.
• W2986001836 hasConceptScore W2986001836C61322309 @default.
• W2986001836 hasConceptScore W2986001836C61705674 @default.
• W2986001836 hasConceptScore W2986001836C71924100 @default.
• W2986001836 hasConceptScore W2986001836C86803240 @default.
• W2986001836 hasFunder F4320320912 @default.
• W2986001836 hasFunder F4320334764 @default.
• W2986001836 hasIssue "12" @default.
• W2986001836 hasLocation W29860018361 @default.
• W2986001836 hasLocation W29860018362 @default.

• next