FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014969854> ?p ?o ?g. }

• W2014969854 endingPage "379" @default.
• W2014969854 startingPage "373" @default.
• W2014969854 abstract "Hereditary myopathy with early respiratory failure is a rare disease with muscle weakness and respiratory failure as early symptoms. Muscle pathology is characterized by the presence of multiple cytoplasmic bodies and other protein aggregates in muscle fibers. The disease is associated with mutations in the titin gene (TTN). All patients harbor mutations located in exon 343 in the TTN gene that codes for the fibronectin III domain 119 (FN3 119) in the 10th motif of the 11-element motif A-band super-repeat. We investigated how such disease-causing mutations affect the biochemical behavior of this titin domain. All five disease-causing amino acid changes analyzed by us (p.P30068R, p.C30071R, p.W30088R, p.W30088C and p.P30091L) resulted in impaired FN3 119 domain solubility. In contrast, amino acid changes associated with common SNPs (p.V30076I, p.R30107C and p.S30125F) did not have this effect. In silico analyses further support the notion that disease-causing mutations impair proper folding of the FN3 119 domain. The results suggest that hereditary myopathy with early respiratory failure is caused by defective protein folding." @default.
• W2014969854 created "2016-06-24" @default.
• W2014969854 creator A5009660424 @default.
• W2014969854 creator A5014022141 @default.
• W2014969854 creator A5022316371 @default.
• W2014969854 creator A5054899752 @default.
• W2014969854 creator A5078824732 @default.
• W2014969854 creator A5089168852 @default.
• W2014969854 date "2014-05-01" @default.
• W2014969854 modified "2023-09-25" @default.
• W2014969854 title "Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomain" @default.
• W2014969854 cites W1913862483 @default.
• W2014969854 cites W1971821609 @default.
• W2014969854 cites W1986191025 @default.
• W2014969854 cites W1988639753 @default.
• W2014969854 cites W1989474294 @default.
• W2014969854 cites W2006274375 @default.
• W2014969854 cites W2017654397 @default.
• W2014969854 cites W2025187846 @default.
• W2014969854 cites W2037312364 @default.
• W2014969854 cites W2043179736 @default.
• W2014969854 cites W2055083485 @default.
• W2014969854 cites W2056747442 @default.
• W2014969854 cites W2059241371 @default.
• W2014969854 cites W2080511552 @default.
• W2014969854 cites W2088145650 @default.
• W2014969854 cites W2099131610 @default.
• W2014969854 cites W2118202513 @default.
• W2014969854 cites W2125772309 @default.
• W2014969854 cites W2140983825 @default.
• W2014969854 cites W2147427845 @default.
• W2014969854 cites W2166483453 @default.
• W2014969854 cites W2166971328 @default.
• W2014969854 cites W2170961439 @default.
• W2014969854 cites W2406138971 @default.
• W2014969854 cites W4232239891 @default.
• W2014969854 cites W4239689251 @default.
• W2014969854 doi "https://doi.org/10.1016/j.nmd.2014.02.003" @default.
• W2014969854 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24636144" @default.
• W2014969854 hasPublicationYear "2014" @default.
• W2014969854 type Work @default.
• W2014969854 sameAs 2014969854 @default.
• W2014969854 citedByCount "17" @default.
• W2014969854 countsByYear W20149698542014 @default.
• W2014969854 countsByYear W20149698542015 @default.
• W2014969854 countsByYear W20149698542016 @default.
• W2014969854 countsByYear W20149698542017 @default.
• W2014969854 countsByYear W20149698542018 @default.
• W2014969854 countsByYear W20149698542021 @default.
• W2014969854 countsByYear W20149698542022 @default.
• W2014969854 countsByYear W20149698542023 @default.
• W2014969854 crossrefType "journal-article" @default.
• W2014969854 hasAuthorship W2014969854A5009660424 @default.
• W2014969854 hasAuthorship W2014969854A5014022141 @default.
• W2014969854 hasAuthorship W2014969854A5022316371 @default.
• W2014969854 hasAuthorship W2014969854A5054899752 @default.
• W2014969854 hasAuthorship W2014969854A5078824732 @default.
• W2014969854 hasAuthorship W2014969854A5089168852 @default.
• W2014969854 hasConcept C104317684 @default.
• W2014969854 hasConcept C126322002 @default.
• W2014969854 hasConcept C142724271 @default.
• W2014969854 hasConcept C207200792 @default.
• W2014969854 hasConcept C2777300911 @default.
• W2014969854 hasConcept C36823959 @default.
• W2014969854 hasConcept C54355233 @default.
• W2014969854 hasConcept C68731436 @default.
• W2014969854 hasConcept C71924100 @default.
• W2014969854 hasConcept C86803240 @default.
• W2014969854 hasConcept C90671521 @default.
• W2014969854 hasConceptScore W2014969854C104317684 @default.
• W2014969854 hasConceptScore W2014969854C126322002 @default.
• W2014969854 hasConceptScore W2014969854C142724271 @default.
• W2014969854 hasConceptScore W2014969854C207200792 @default.
• W2014969854 hasConceptScore W2014969854C2777300911 @default.
• W2014969854 hasConceptScore W2014969854C36823959 @default.
• W2014969854 hasConceptScore W2014969854C54355233 @default.
• W2014969854 hasConceptScore W2014969854C68731436 @default.
• W2014969854 hasConceptScore W2014969854C71924100 @default.
• W2014969854 hasConceptScore W2014969854C86803240 @default.
• W2014969854 hasConceptScore W2014969854C90671521 @default.
• W2014969854 hasIssue "5" @default.
• W2014969854 hasLocation W20149698541 @default.
• W2014969854 hasLocation W20149698542 @default.
• W2014969854 hasOpenAccess W2014969854 @default.
• W2014969854 hasPrimaryLocation W20149698541 @default.
• W2014969854 hasRelatedWork W2002128513 @default.
• W2014969854 hasRelatedWork W2025851750 @default.
• W2014969854 hasRelatedWork W2039352533 @default.
• W2014969854 hasRelatedWork W2092554027 @default.
• W2014969854 hasRelatedWork W2168467210 @default.
• W2014969854 hasRelatedWork W2171277769 @default.
• W2014969854 hasRelatedWork W4242521457 @default.
• W2014969854 hasRelatedWork W4247548287 @default.
• W2014969854 hasRelatedWork W4313585586 @default.
• W2014969854 hasRelatedWork W2092874662 @default.
• W2014969854 hasVolume "24" @default.
• W2014969854 isParatext "false" @default.
• W2014969854 isRetracted "false" @default.

• next