FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3202714265> ?p ?o ?g. }

• W3202714265 endingPage "101228" @default.
• W3202714265 startingPage "101228" @default.
• W3202714265 abstract "Pathogenic variants of the gene for smooth muscle α-actin (ACTA2), which encodes smooth muscle (SM) α-actin, predispose to heritable thoracic aortic disease. The ACTA2 variant p.Arg149Cys (R149C) is the most common alteration; however, only 60% of carriers have a dissection or undergo repair of an aneurysm by 70 years of age. A mouse model of ACTA2 p.Arg149Cys was generated using CRISPR/Cas9 technology to determine the etiology of reduced penetrance. Acta2R149C/+ mice had significantly decreased aortic contraction compared with WT mice but did not form aortic aneurysms or dissections when followed to 24 months, even when hypertension was induced. In vitro motility assays found decreased interaction of mutant SM α-actin filaments with SM myosin. Polymerization studies using total internal reflection fluorescence microscopy showed enhanced nucleation of mutant SM α-actin by formin, which correlated with disorganized and reduced SM α-actin filaments in Acta2R149C/+ smooth muscle cells (SMCs). However, the most prominent molecular defect was the increased retention of mutant SM α-actin in the chaperonin-containing t-complex polypeptide folding complex, which was associated with reduced levels of mutant compared with WT SM α-actin in Acta2R149C/+ SMCs. These data indicate that Acta2R149C/+ mice do not develop thoracic aortic disease despite decreased contraction of aortic segments and disrupted SM α-actin filament formation and function in Acta2R149C/+ SMCs. Enhanced binding of mutant SM α-actin to chaperonin-containing t-complex polypeptide decreases the mutant actin versus WT monomer levels in Acta2R149C/+ SMCs, thus minimizing the effect of the mutation on SMC function and potentially preventing aortic disease in the Acta2R149C/+ mice." @default.
• W3202714265 created "2021-10-11" @default.
• W3202714265 creator A5010735952 @default.
• W3202714265 creator A5017916417 @default.
• W3202714265 creator A5017929396 @default.
• W3202714265 creator A5019411085 @default.
• W3202714265 creator A5019749999 @default.
• W3202714265 creator A5020089804 @default.
• W3202714265 creator A5035579449 @default.
• W3202714265 creator A5039635115 @default.
• W3202714265 creator A5052902559 @default.
• W3202714265 creator A5056795074 @default.
• W3202714265 creator A5058503945 @default.
• W3202714265 creator A5059698208 @default.
• W3202714265 creator A5060149373 @default.
• W3202714265 creator A5080053699 @default.
• W3202714265 creator A5080528780 @default.
• W3202714265 date "2021-12-01" @default.
• W3202714265 modified "2023-10-18" @default.
• W3202714265 title "Resistance of Acta2 mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex" @default.
• W3202714265 cites W1834201937 @default.
• W3202714265 cites W1841315312 @default.
• W3202714265 cites W1986884962 @default.
• W3202714265 cites W2002491526 @default.
• W3202714265 cites W2004645310 @default.
• W3202714265 cites W2011196754 @default.
• W3202714265 cites W2038136158 @default.
• W3202714265 cites W2048184316 @default.
• W3202714265 cites W2069077125 @default.
• W3202714265 cites W2077989885 @default.
• W3202714265 cites W2093938367 @default.
• W3202714265 cites W2098829460 @default.
• W3202714265 cites W2104921070 @default.
• W3202714265 cites W2120504118 @default.
• W3202714265 cites W2128111264 @default.
• W3202714265 cites W2153026640 @default.
• W3202714265 cites W2253642858 @default.
• W3202714265 cites W2516103117 @default.
• W3202714265 cites W2554066586 @default.
• W3202714265 cites W2621716759 @default.
• W3202714265 cites W2809986468 @default.
• W3202714265 cites W2887657552 @default.
• W3202714265 cites W2887692611 @default.
• W3202714265 cites W2907154429 @default.
• W3202714265 doi "https://doi.org/10.1016/j.jbc.2021.101228" @default.
• W3202714265 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34600884" @default.
• W3202714265 hasPublicationYear "2021" @default.
• W3202714265 type Work @default.
• W3202714265 sameAs 3202714265 @default.
• W3202714265 citedByCount "5" @default.
• W3202714265 countsByYear W32027142652022 @default.
• W3202714265 countsByYear W32027142652023 @default.
• W3202714265 crossrefType "journal-article" @default.
• W3202714265 hasAuthorship W3202714265A5010735952 @default.
• W3202714265 hasAuthorship W3202714265A5017916417 @default.
• W3202714265 hasAuthorship W3202714265A5017929396 @default.
• W3202714265 hasAuthorship W3202714265A5019411085 @default.
• W3202714265 hasAuthorship W3202714265A5019749999 @default.
• W3202714265 hasAuthorship W3202714265A5020089804 @default.
• W3202714265 hasAuthorship W3202714265A5035579449 @default.
• W3202714265 hasAuthorship W3202714265A5039635115 @default.
• W3202714265 hasAuthorship W3202714265A5052902559 @default.
• W3202714265 hasAuthorship W3202714265A5056795074 @default.
• W3202714265 hasAuthorship W3202714265A5058503945 @default.
• W3202714265 hasAuthorship W3202714265A5059698208 @default.
• W3202714265 hasAuthorship W3202714265A5060149373 @default.
• W3202714265 hasAuthorship W3202714265A5080053699 @default.
• W3202714265 hasAuthorship W3202714265A5080528780 @default.
• W3202714265 hasBestOaLocation W32027142651 @default.
• W3202714265 hasConcept C104317684 @default.
• W3202714265 hasConcept C125705527 @default.
• W3202714265 hasConcept C133702464 @default.
• W3202714265 hasConcept C142669718 @default.
• W3202714265 hasConcept C143065580 @default.
• W3202714265 hasConcept C1491633281 @default.
• W3202714265 hasConcept C153911025 @default.
• W3202714265 hasConcept C207200792 @default.
• W3202714265 hasConcept C55493867 @default.
• W3202714265 hasConcept C68731436 @default.
• W3202714265 hasConcept C6997183 @default.
• W3202714265 hasConcept C86803240 @default.
• W3202714265 hasConcept C95444343 @default.
• W3202714265 hasConceptScore W3202714265C104317684 @default.
• W3202714265 hasConceptScore W3202714265C125705527 @default.
• W3202714265 hasConceptScore W3202714265C133702464 @default.
• W3202714265 hasConceptScore W3202714265C142669718 @default.
• W3202714265 hasConceptScore W3202714265C143065580 @default.
• W3202714265 hasConceptScore W3202714265C1491633281 @default.
• W3202714265 hasConceptScore W3202714265C153911025 @default.
• W3202714265 hasConceptScore W3202714265C207200792 @default.
• W3202714265 hasConceptScore W3202714265C55493867 @default.
• W3202714265 hasConceptScore W3202714265C68731436 @default.
• W3202714265 hasConceptScore W3202714265C6997183 @default.
• W3202714265 hasConceptScore W3202714265C86803240 @default.
• W3202714265 hasConceptScore W3202714265C95444343 @default.
• W3202714265 hasFunder F4320311894 @default.
• W3202714265 hasFunder F4320313675 @default.
• W3202714265 hasFunder F4320332161 @default.

• next