FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3000477302> ?p ?o ?g. }

• W3000477302 abstract "The ryanodine receptor mediates intracellular calcium ion release with excitation of nerve and muscle cells. Ryanodine receptor missense variants cause a number of myopathologies, such as malignant hyperthermia, and have been linked with various neuropathologies, including Alzheimer’s disease. We characterized the consequences of ryanodine receptor variants in vivo. Eight Caenorhabditis elegans strains, with ryanodine receptor modifications equivalent to human myopathic RYR1 variants, were generated by genome editing. In humans, these variants are rare and confer sensitivity to the inhalational anaesthetic halothane when heterozygous. Increased sensitivity to halothane was found in both homozygous and heterozygous C. elegans. Close analysis revealed distinct subtle locomotion defects, due to the different single amino acid residue changes, even in the absence of the external triggering agent. Distinct pre- and postsynaptic consequences of the variants were characterized through the responses to cholinergic pharmacological agents. The range of phenotypes reflects the complexity of the regulatory inputs to the ryanodine receptor and the criticality of the calcium ion channel opening properties, in different cell types and with age. Ryanodine receptors with these single amino acid residue changes still function as calcium ion channels, but with altered properties which are likely to have subtle consequences for human carriers of such variants. The long-term consequences of subtly altered calcium ion signalling could be cumulative and may be focussed in the smaller nerve cells rather than the more robust muscle cells. It was important to assess phenotypes in vivo to properly appreciate consequences for a whole organism." @default.
• W3000477302 created "2020-01-23" @default.
• W3000477302 creator A5048555654 @default.
• W3000477302 creator A5089925853 @default.
• W3000477302 creator A5090731694 @default.
• W3000477302 date "2020-02-26" @default.
• W3000477302 modified "2023-09-24" @default.
• W3000477302 title "Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function" @default.
• W3000477302 cites W1533255176 @default.
• W3000477302 cites W1547730299 @default.
• W3000477302 cites W1901419121 @default.
• W3000477302 cites W1972772651 @default.
• W3000477302 cites W1986006829 @default.
• W3000477302 cites W1989402738 @default.
• W3000477302 cites W1993999630 @default.
• W3000477302 cites W2000931006 @default.
• W3000477302 cites W2010104885 @default.
• W3000477302 cites W2012528202 @default.
• W3000477302 cites W2017415739 @default.
• W3000477302 cites W2021630348 @default.
• W3000477302 cites W2039547987 @default.
• W3000477302 cites W2062152852 @default.
• W3000477302 cites W2067297047 @default.
• W3000477302 cites W2072931441 @default.
• W3000477302 cites W2078833625 @default.
• W3000477302 cites W2082721485 @default.
• W3000477302 cites W2099540110 @default.
• W3000477302 cites W2100365580 @default.
• W3000477302 cites W2102477045 @default.
• W3000477302 cites W2109020515 @default.
• W3000477302 cites W2114361822 @default.
• W3000477302 cites W2116394768 @default.
• W3000477302 cites W2116761531 @default.
• W3000477302 cites W2121074963 @default.
• W3000477302 cites W2124482797 @default.
• W3000477302 cites W2130233455 @default.
• W3000477302 cites W2145037154 @default.
• W3000477302 cites W2146587884 @default.
• W3000477302 cites W2147241129 @default.
• W3000477302 cites W2147493307 @default.
• W3000477302 cites W2154826115 @default.
• W3000477302 cites W2252431628 @default.
• W3000477302 cites W2256016639 @default.
• W3000477302 cites W2551948663 @default.
• W3000477302 cites W2586053034 @default.
• W3000477302 cites W2597746365 @default.
• W3000477302 cites W2743873157 @default.
• W3000477302 cites W2754781165 @default.
• W3000477302 cites W2767777174 @default.
• W3000477302 cites W2773889395 @default.
• W3000477302 cites W2792738008 @default.
• W3000477302 cites W2884078888 @default.
• W3000477302 cites W2884436577 @default.
• W3000477302 cites W2941551554 @default.
• W3000477302 cites W2956325081 @default.
• W3000477302 cites W4238861095 @default.
• W3000477302 doi "https://doi.org/10.3389/fgene.2020.00037" @default.
• W3000477302 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7054344" @default.
• W3000477302 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32174957" @default.
• W3000477302 hasPublicationYear "2020" @default.
• W3000477302 type Work @default.
• W3000477302 sameAs 3000477302 @default.
• W3000477302 citedByCount "2" @default.
• W3000477302 countsByYear W30004773022022 @default.
• W3000477302 countsByYear W30004773022023 @default.
• W3000477302 crossrefType "journal-article" @default.
• W3000477302 hasAuthorship W3000477302A5048555654 @default.
• W3000477302 hasAuthorship W3000477302A5089925853 @default.
• W3000477302 hasAuthorship W3000477302A5090731694 @default.
• W3000477302 hasBestOaLocation W30004773021 @default.
• W3000477302 hasConcept C104317684 @default.
• W3000477302 hasConcept C113217602 @default.
• W3000477302 hasConcept C142724271 @default.
• W3000477302 hasConcept C170493617 @default.
• W3000477302 hasConcept C178790620 @default.
• W3000477302 hasConcept C185592680 @default.
• W3000477302 hasConcept C2776333580 @default.
• W3000477302 hasConcept C2778575482 @default.
• W3000477302 hasConcept C2778944004 @default.
• W3000477302 hasConcept C2908647359 @default.
• W3000477302 hasConcept C519063684 @default.
• W3000477302 hasConcept C54355233 @default.
• W3000477302 hasConcept C71924100 @default.
• W3000477302 hasConcept C86803240 @default.
• W3000477302 hasConcept C95444343 @default.
• W3000477302 hasConcept C99454951 @default.
• W3000477302 hasConceptScore W3000477302C104317684 @default.
• W3000477302 hasConceptScore W3000477302C113217602 @default.
• W3000477302 hasConceptScore W3000477302C142724271 @default.
• W3000477302 hasConceptScore W3000477302C170493617 @default.
• W3000477302 hasConceptScore W3000477302C178790620 @default.
• W3000477302 hasConceptScore W3000477302C185592680 @default.
• W3000477302 hasConceptScore W3000477302C2776333580 @default.
• W3000477302 hasConceptScore W3000477302C2778575482 @default.
• W3000477302 hasConceptScore W3000477302C2778944004 @default.
• W3000477302 hasConceptScore W3000477302C2908647359 @default.
• W3000477302 hasConceptScore W3000477302C519063684 @default.
• W3000477302 hasConceptScore W3000477302C54355233 @default.
• W3000477302 hasConceptScore W3000477302C71924100 @default.
• W3000477302 hasConceptScore W3000477302C86803240 @default.

• next