FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2111034823> ?p ?o ?g. }

• W2111034823 endingPage "671" @default.
• W2111034823 startingPage "665" @default.
• W2111034823 abstract "A561E, a novel cystic fibrosis (CF) associated mutation in the first nucleotide binding domain of CFTR, is the second most common CF mutation in Portugal. Properties of the A561E-CFTR protein were studied by immunoblotting, pulse-chase, immunocytochemistry, and MQAE halide-efflux assay in stably transfected BHK cells. Altogether, results presented here suggest that A561E causes protein mislocalization in the endoplasmic reticulum where the mutant protein must be trapped by the quality control mechanism. We conclude that A561E originates a protein trafficking defect, thus belonging to class II of CFTR mutations. As it is the case for F508del-CFTR (the most common CF mutant), low temperature treatment partially rescues a functional A561E-CFTR channel, suggesting that substitution of glutamic acid for alanine at position 561 does not completely abolish CFTR function. Pharmacological strategies previously reported for treatment of CF patients with the F508del mutation could thus be also effective in CF patients bearing the A561E mutation." @default.
• W2111034823 created "2016-06-24" @default.
• W2111034823 creator A5030018246 @default.
• W2111034823 creator A5052645595 @default.
• W2111034823 creator A5056419519 @default.
• W2111034823 creator A5071552003 @default.
• W2111034823 creator A5082884953 @default.
• W2111034823 creator A5083582675 @default.
• W2111034823 creator A5085821237 @default.
• W2111034823 date "2003-11-01" @default.
• W2111034823 modified "2023-10-05" @default.
• W2111034823 title "Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein" @default.
• W2111034823 cites W120703973 @default.
• W2111034823 cites W1525551129 @default.
• W2111034823 cites W1638694981 @default.
• W2111034823 cites W1982071077 @default.
• W2111034823 cites W2025661007 @default.
• W2111034823 cites W2030955600 @default.
• W2111034823 cites W2044594872 @default.
• W2111034823 cites W2052588826 @default.
• W2111034823 cites W2070043042 @default.
• W2111034823 cites W2078818437 @default.
• W2111034823 cites W2079234445 @default.
• W2111034823 cites W2116321050 @default.
• W2111034823 cites W2122484880 @default.
• W2111034823 cites W2138405580 @default.
• W2111034823 cites W2159836940 @default.
• W2111034823 cites W2169380146 @default.
• W2111034823 cites W2173634416 @default.
• W2111034823 cites W2415950711 @default.
• W2111034823 doi "https://doi.org/10.1016/j.bbrc.2003.10.048" @default.
• W2111034823 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14623323" @default.
• W2111034823 hasPublicationYear "2003" @default.
• W2111034823 type Work @default.
• W2111034823 sameAs 2111034823 @default.
• W2111034823 citedByCount "28" @default.
• W2111034823 countsByYear W21110348232012 @default.
• W2111034823 countsByYear W21110348232013 @default.
• W2111034823 countsByYear W21110348232014 @default.
• W2111034823 countsByYear W21110348232015 @default.
• W2111034823 countsByYear W21110348232016 @default.
• W2111034823 countsByYear W21110348232018 @default.
• W2111034823 countsByYear W21110348232019 @default.
• W2111034823 countsByYear W21110348232020 @default.
• W2111034823 countsByYear W21110348232021 @default.
• W2111034823 crossrefType "journal-article" @default.
• W2111034823 hasAuthorship W2111034823A5030018246 @default.
• W2111034823 hasAuthorship W2111034823A5052645595 @default.
• W2111034823 hasAuthorship W2111034823A5056419519 @default.
• W2111034823 hasAuthorship W2111034823A5071552003 @default.
• W2111034823 hasAuthorship W2111034823A5082884953 @default.
• W2111034823 hasAuthorship W2111034823A5083582675 @default.
• W2111034823 hasAuthorship W2111034823A5085821237 @default.
• W2111034823 hasConcept C104317684 @default.
• W2111034823 hasConcept C113027372 @default.
• W2111034823 hasConcept C134018914 @default.
• W2111034823 hasConcept C143065580 @default.
• W2111034823 hasConcept C145822097 @default.
• W2111034823 hasConcept C153911025 @default.
• W2111034823 hasConcept C158617107 @default.
• W2111034823 hasConcept C167625842 @default.
• W2111034823 hasConcept C185592680 @default.
• W2111034823 hasConcept C2776938444 @default.
• W2111034823 hasConcept C2778428886 @default.
• W2111034823 hasConcept C2778740566 @default.
• W2111034823 hasConcept C2779856020 @default.
• W2111034823 hasConcept C2779926675 @default.
• W2111034823 hasConcept C35866371 @default.
• W2111034823 hasConcept C501734568 @default.
• W2111034823 hasConcept C515207424 @default.
• W2111034823 hasConcept C54009773 @default.
• W2111034823 hasConcept C54355233 @default.
• W2111034823 hasConcept C55493867 @default.
• W2111034823 hasConcept C86803240 @default.
• W2111034823 hasConceptScore W2111034823C104317684 @default.
• W2111034823 hasConceptScore W2111034823C113027372 @default.
• W2111034823 hasConceptScore W2111034823C134018914 @default.
• W2111034823 hasConceptScore W2111034823C143065580 @default.
• W2111034823 hasConceptScore W2111034823C145822097 @default.
• W2111034823 hasConceptScore W2111034823C153911025 @default.
• W2111034823 hasConceptScore W2111034823C158617107 @default.
• W2111034823 hasConceptScore W2111034823C167625842 @default.
• W2111034823 hasConceptScore W2111034823C185592680 @default.
• W2111034823 hasConceptScore W2111034823C2776938444 @default.
• W2111034823 hasConceptScore W2111034823C2778428886 @default.
• W2111034823 hasConceptScore W2111034823C2778740566 @default.
• W2111034823 hasConceptScore W2111034823C2779856020 @default.
• W2111034823 hasConceptScore W2111034823C2779926675 @default.
• W2111034823 hasConceptScore W2111034823C35866371 @default.
• W2111034823 hasConceptScore W2111034823C501734568 @default.
• W2111034823 hasConceptScore W2111034823C515207424 @default.
• W2111034823 hasConceptScore W2111034823C54009773 @default.
• W2111034823 hasConceptScore W2111034823C54355233 @default.
• W2111034823 hasConceptScore W2111034823C55493867 @default.
• W2111034823 hasConceptScore W2111034823C86803240 @default.
• W2111034823 hasIssue "3" @default.
• W2111034823 hasLocation W21110348231 @default.
• W2111034823 hasLocation W21110348232 @default.

• next