FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4312038017> ?p ?o ?g. }

• W4312038017 endingPage "18" @default.
• W4312038017 startingPage "18" @default.
• W4312038017 abstract "Hypertrophic cardiomyopathy (HCM), caused by mutations in thin filament proteins, manifests as moderate cardiac hypertrophy and is associated with sudden cardiac death (SCD). We identified a new de novo variant, c.656A>T (p.D219V), in the TPM1 gene encoding cardiac tropomyosin 1.1 (Tpm) in a young SCD victim with post-mortem-diagnosed HCM. We produced recombinant D219V Tpm1.1 and studied its structural and functional properties using various biochemical and biophysical methods. The D219V mutation did not affect the Tpm affinity for F-actin but increased the thermal stability of the Tpm molecule and Tpm-F-actin complex. The D219V mutation significantly increased the Ca2+ sensitivity of the sliding velocity of thin filaments over cardiac myosin in an in vitro motility assay and impaired the inhibition of the filament sliding at low Ca2+ concentration. The molecular dynamics (MD) simulation provided insight into a possible molecular mechanism of the effect of the mutation that is most likely a cause of the weakening of the Tpm interaction with actin in the closed state and so makes it an easier transition to the “open” state. The changes in the Ca2+ regulation of the actin-myosin interaction characteristic of genetic HCM suggest that the mutation is likely pathogenic." @default.
• W4312038017 created "2023-01-04" @default.
• W4312038017 creator A5007406534 @default.
• W4312038017 creator A5007484929 @default.
• W4312038017 creator A5011627196 @default.
• W4312038017 creator A5021285740 @default.
• W4312038017 creator A5025545848 @default.
• W4312038017 creator A5032288569 @default.
• W4312038017 creator A5032596931 @default.
• W4312038017 creator A5046679625 @default.
• W4312038017 creator A5052552840 @default.
• W4312038017 creator A5055506568 @default.
• W4312038017 creator A5059065084 @default.
• W4312038017 creator A5071399733 @default.
• W4312038017 date "2022-12-20" @default.
• W4312038017 modified "2023-10-16" @default.
• W4312038017 title "De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy" @default.
• W4312038017 cites W1031578623 @default.
• W4312038017 cites W1481760785 @default.
• W4312038017 cites W1962950334 @default.
• W4312038017 cites W1966845110 @default.
• W4312038017 cites W1975421284 @default.
• W4312038017 cites W1978849431 @default.
• W4312038017 cites W1992924616 @default.
• W4312038017 cites W2005567086 @default.
• W4312038017 cites W2017535186 @default.
• W4312038017 cites W2021341670 @default.
• W4312038017 cites W2024472196 @default.
• W4312038017 cites W2038514751 @default.
• W4312038017 cites W2051978340 @default.
• W4312038017 cites W2058118262 @default.
• W4312038017 cites W2058497997 @default.
• W4312038017 cites W2059194284 @default.
• W4312038017 cites W2071643811 @default.
• W4312038017 cites W2088384235 @default.
• W4312038017 cites W2114933727 @default.
• W4312038017 cites W2129906012 @default.
• W4312038017 cites W2132629607 @default.
• W4312038017 cites W2139292873 @default.
• W4312038017 cites W2157230023 @default.
• W4312038017 cites W2159392498 @default.
• W4312038017 cites W2161605421 @default.
• W4312038017 cites W2475044748 @default.
• W4312038017 cites W2522522802 @default.
• W4312038017 cites W2560223767 @default.
• W4312038017 cites W2579745418 @default.
• W4312038017 cites W2618392886 @default.
• W4312038017 cites W2750874115 @default.
• W4312038017 cites W2756203218 @default.
• W4312038017 cites W2792960349 @default.
• W4312038017 cites W2886897218 @default.
• W4312038017 cites W2891892212 @default.
• W4312038017 cites W2892376136 @default.
• W4312038017 cites W2947341597 @default.
• W4312038017 cites W2953187830 @default.
• W4312038017 cites W2956025138 @default.
• W4312038017 cites W2973569481 @default.
• W4312038017 cites W2999315765 @default.
• W4312038017 cites W3006705337 @default.
• W4312038017 cites W3014209586 @default.
• W4312038017 cites W3093464405 @default.
• W4312038017 cites W3094863758 @default.
• W4312038017 cites W3098317154 @default.
• W4312038017 cites W3135204245 @default.
• W4312038017 cites W3145848526 @default.
• W4312038017 cites W4210757612 @default.
• W4312038017 cites W4281623961 @default.
• W4312038017 cites W4297249011 @default.
• W4312038017 cites W990801113 @default.
• W4312038017 doi "https://doi.org/10.3390/ijms24010018" @default.
• W4312038017 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36613463" @default.
• W4312038017 hasPublicationYear "2022" @default.
• W4312038017 type Work @default.
• W4312038017 citedByCount "4" @default.
• W4312038017 countsByYear W43120380172023 @default.
• W4312038017 crossrefType "journal-article" @default.
• W4312038017 hasAuthorship W4312038017A5007406534 @default.
• W4312038017 hasAuthorship W4312038017A5007484929 @default.
• W4312038017 hasAuthorship W4312038017A5011627196 @default.
• W4312038017 hasAuthorship W4312038017A5021285740 @default.
• W4312038017 hasAuthorship W4312038017A5025545848 @default.
• W4312038017 hasAuthorship W4312038017A5032288569 @default.
• W4312038017 hasAuthorship W4312038017A5032596931 @default.
• W4312038017 hasAuthorship W4312038017A5046679625 @default.
• W4312038017 hasAuthorship W4312038017A5052552840 @default.
• W4312038017 hasAuthorship W4312038017A5055506568 @default.
• W4312038017 hasAuthorship W4312038017A5059065084 @default.
• W4312038017 hasAuthorship W4312038017A5071399733 @default.
• W4312038017 hasBestOaLocation W43120380171 @default.
• W4312038017 hasConcept C104317684 @default.
• W4312038017 hasConcept C125705527 @default.
• W4312038017 hasConcept C14228908 @default.
• W4312038017 hasConcept C185592680 @default.
• W4312038017 hasConcept C194232998 @default.
• W4312038017 hasConcept C205875245 @default.
• W4312038017 hasConcept C2780185194 @default.
• W4312038017 hasConcept C501734568 @default.
• W4312038017 hasConcept C54355233 @default.

• next