FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1978547646> ?p ?o ?g. }

• W1978547646 endingPage "7928" @default.
• W1978547646 startingPage "7923" @default.
• W1978547646 abstract "Malignant hyperthermia (MH) susceptibility is a dominantly inherited disorder in which volatile anesthetics trigger aberrant Ca(2+) release in skeletal muscle and a potentially fatal rise in perioperative body temperature. Mutations causing MH susceptibility have been identified in two proteins critical for excitation-contraction (EC) coupling, the type 1 ryanodine receptor (RyR1) and Ca(V)1.1, the principal subunit of the L-type Ca(2+) channel. All of the mutations that have been characterized previously augment EC coupling and/or increase the rate of L-type Ca(2+) entry. The Ca(V)1.1 mutation R174W associated with MH susceptibility occurs at the innermost basic residue of the IS4 voltage-sensing helix, a residue conserved among all Ca(V) channels [Carpenter D, et al. (2009) BMC Med Genet 10:104-115.]. To define the functional consequences of this mutation, we expressed it in dysgenic (Ca(V)1.1 null) myotubes. Unlike previously described MH-linked mutations in Ca(V)1.1, R174W ablated the L-type current and had no effect on EC coupling. Nonetheless, R174W increased sensitivity of Ca(2+) release to caffeine (used for MH diagnostic in vitro testing) and to volatile anesthetics. Moreover, in Ca(V)1.1 R174W-expressing myotubes, resting myoplasmic Ca(2+) levels were elevated, and sarcoplasmic reticulum (SR) stores were partially depleted, compared with myotubes expressing wild-type Ca(V)1.1. Our results indicate that Ca(V)1.1 functions not only to activate RyR1 during EC coupling, but also to suppress resting RyR1-mediated Ca(2+) leak from the SR, and that perturbation of Ca(V)1.1 negative regulation of RyR1 leak identifies a unique mechanism that can sensitize muscle cells to MH triggers." @default.
• W1978547646 created "2016-06-24" @default.
• W1978547646 creator A5000882661 @default.
• W1978547646 creator A5006837150 @default.
• W1978547646 creator A5008365766 @default.
• W1978547646 creator A5013306631 @default.
• W1978547646 creator A5014793389 @default.
• W1978547646 creator A5056958049 @default.
• W1978547646 creator A5057663126 @default.
• W1978547646 creator A5062067826 @default.
• W1978547646 creator A5062413385 @default.
• W1978547646 creator A5078812784 @default.
• W1978547646 date "2012-04-30" @default.
• W1978547646 modified "2023-10-15" @default.
• W1978547646 title "Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca ²⁺ channel and the type 1 ryanodine receptor" @default.
• W1978547646 cites W144978566 @default.
• W1978547646 cites W1492364730 @default.
• W1978547646 cites W1534636938 @default.
• W1978547646 cites W1780158614 @default.
• W1978547646 cites W1968306591 @default.
• W1978547646 cites W1968408785 @default.
• W1978547646 cites W1973150566 @default.
• W1978547646 cites W1982717927 @default.
• W1978547646 cites W2000931006 @default.
• W1978547646 cites W2002121842 @default.
• W1978547646 cites W2004018202 @default.
• W1978547646 cites W2010873798 @default.
• W1978547646 cites W2017415739 @default.
• W1978547646 cites W2023974577 @default.
• W1978547646 cites W2024929666 @default.
• W1978547646 cites W2029209067 @default.
• W1978547646 cites W2037048489 @default.
• W1978547646 cites W2042698458 @default.
• W1978547646 cites W2054591037 @default.
• W1978547646 cites W2057598441 @default.
• W1978547646 cites W2058324461 @default.
• W1978547646 cites W2066802263 @default.
• W1978547646 cites W2076269741 @default.
• W1978547646 cites W2078360969 @default.
• W1978547646 cites W2082721485 @default.
• W1978547646 cites W2083244884 @default.
• W1978547646 cites W2087040379 @default.
• W1978547646 cites W2088864366 @default.
• W1978547646 cites W2089115225 @default.
• W1978547646 cites W2089502561 @default.
• W1978547646 cites W2092605434 @default.
• W1978547646 cites W2101412271 @default.
• W1978547646 cites W2112826014 @default.
• W1978547646 cites W2121481190 @default.
• W1978547646 cites W2124905536 @default.
• W1978547646 cites W2148269081 @default.
• W1978547646 cites W2150893018 @default.
• W1978547646 cites W2162571712 @default.
• W1978547646 cites W2163073874 @default.
• W1978547646 cites W2171602715 @default.
• W1978547646 doi "https://doi.org/10.1073/pnas.1119207109" @default.
• W1978547646 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3356662" @default.
• W1978547646 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22547813" @default.
• W1978547646 hasPublicationYear "2012" @default.
• W1978547646 type Work @default.
• W1978547646 sameAs 1978547646 @default.
• W1978547646 citedByCount "83" @default.
• W1978547646 countsByYear W19785476462012 @default.
• W1978547646 countsByYear W19785476462013 @default.
• W1978547646 countsByYear W19785476462014 @default.
• W1978547646 countsByYear W19785476462015 @default.
• W1978547646 countsByYear W19785476462016 @default.
• W1978547646 countsByYear W19785476462017 @default.
• W1978547646 countsByYear W19785476462018 @default.
• W1978547646 countsByYear W19785476462019 @default.
• W1978547646 countsByYear W19785476462020 @default.
• W1978547646 countsByYear W19785476462021 @default.
• W1978547646 countsByYear W19785476462022 @default.
• W1978547646 countsByYear W19785476462023 @default.
• W1978547646 crossrefType "journal-article" @default.
• W1978547646 hasAuthorship W1978547646A5000882661 @default.
• W1978547646 hasAuthorship W1978547646A5006837150 @default.
• W1978547646 hasAuthorship W1978547646A5008365766 @default.
• W1978547646 hasAuthorship W1978547646A5013306631 @default.
• W1978547646 hasAuthorship W1978547646A5014793389 @default.
• W1978547646 hasAuthorship W1978547646A5056958049 @default.
• W1978547646 hasAuthorship W1978547646A5057663126 @default.
• W1978547646 hasAuthorship W1978547646A5062067826 @default.
• W1978547646 hasAuthorship W1978547646A5062413385 @default.
• W1978547646 hasAuthorship W1978547646A5078812784 @default.
• W1978547646 hasBestOaLocation W19785476461 @default.
• W1978547646 hasConcept C104317684 @default.
• W1978547646 hasConcept C113217602 @default.
• W1978547646 hasConcept C126322002 @default.
• W1978547646 hasConcept C134018914 @default.
• W1978547646 hasConcept C142724271 @default.
• W1978547646 hasConcept C143065580 @default.
• W1978547646 hasConcept C158617107 @default.
• W1978547646 hasConcept C185592680 @default.
• W1978547646 hasConcept C18699975 @default.
• W1978547646 hasConcept C207583985 @default.
• W1978547646 hasConcept C2776333580 @default.
• W1978547646 hasConcept C2778575482 @default.

• next