FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2003647788> ?p ?o ?g. }

• W2003647788 endingPage "379" @default.
• W2003647788 startingPage "376" @default.
• W2003647788 abstract "Aberrant protein processing with tissue deposition is associated with many common neurodegenerative disorders; however, the complex interplay of genetic and environmental factors has made it difficult to decipher the sequence of events linking protein aggregation with clinical disease. Substantial progress has been made toward understanding the pathophysiology of prototypical conformational diseases and protein polymerization in the superfamily of serine proteinase inhibitors (serpins). Here we describe a new disease, familial encephalopathy with neuroserpin inclusion bodies, characterized clinically as an autosomal dominantly inherited dementia, histologically by unique neuronal inclusion bodies and biochemically by polymers of the neuron-specific serpin, neuroserpin. We report the cosegregation of point mutations in the neuroserpin gene (PI12) with the disease in two families. The significance of one mutation, S49P, is evident from its homology to a previously described serpin mutations, whereas that of the other, S52R, is predicted by modelling of the serpin template. Our findings provide a molecular mechanism for a familial dementia and imply that inhibitors of protein polymerization may be effective therapies for this disorder and perhaps for other more common neurodegenerative diseases." @default.
• W2003647788 created "2016-06-24" @default.
• W2003647788 creator A5001979226 @default.
• W2003647788 creator A5003944792 @default.
• W2003647788 creator A5005396213 @default.
• W2003647788 creator A5005679926 @default.
• W2003647788 creator A5006818641 @default.
• W2003647788 creator A5008034163 @default.
• W2003647788 creator A5034262534 @default.
• W2003647788 creator A5036734448 @default.
• W2003647788 creator A5037402564 @default.
• W2003647788 creator A5039232873 @default.
• W2003647788 creator A5040034598 @default.
• W2003647788 creator A5040920280 @default.
• W2003647788 creator A5041355508 @default.
• W2003647788 creator A5052347118 @default.
• W2003647788 creator A5054547740 @default.
• W2003647788 creator A5058914787 @default.
• W2003647788 creator A5069437620 @default.
• W2003647788 creator A5079004855 @default.
• W2003647788 creator A5082672898 @default.
• W2003647788 creator A5086175988 @default.
• W2003647788 date "1999-09-01" @default.
• W2003647788 modified "2023-10-12" @default.
• W2003647788 title "Familial dementia caused by polymerization of mutant neuroserpin" @default.
• W2003647788 cites W1498984457 @default.
• W2003647788 cites W1555987236 @default.
• W2003647788 cites W1608230281 @default.
• W2003647788 cites W162878835 @default.
• W2003647788 cites W1977222032 @default.
• W2003647788 cites W2006876120 @default.
• W2003647788 cites W2013440461 @default.
• W2003647788 cites W2013474205 @default.
• W2003647788 cites W2028231353 @default.
• W2003647788 cites W2031343997 @default.
• W2003647788 cites W2033178503 @default.
• W2003647788 cites W2053349920 @default.
• W2003647788 cites W2054160125 @default.
• W2003647788 cites W2072665488 @default.
• W2003647788 cites W2080156531 @default.
• W2003647788 cites W2081111499 @default.
• W2003647788 cites W2083120544 @default.
• W2003647788 cites W2087538939 @default.
• W2003647788 cites W2090740497 @default.
• W2003647788 cites W2118588834 @default.
• W2003647788 cites W2169628793 @default.
• W2003647788 cites W2325223078 @default.
• W2003647788 cites W4240929891 @default.
• W2003647788 doi "https://doi.org/10.1038/43894" @default.
• W2003647788 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10517635" @default.
• W2003647788 hasPublicationYear "1999" @default.
• W2003647788 type Work @default.
• W2003647788 sameAs 2003647788 @default.
• W2003647788 citedByCount "237" @default.
• W2003647788 countsByYear W20036477882012 @default.
• W2003647788 countsByYear W20036477882013 @default.
• W2003647788 countsByYear W20036477882014 @default.
• W2003647788 countsByYear W20036477882015 @default.
• W2003647788 countsByYear W20036477882016 @default.
• W2003647788 countsByYear W20036477882017 @default.
• W2003647788 countsByYear W20036477882018 @default.
• W2003647788 countsByYear W20036477882019 @default.
• W2003647788 countsByYear W20036477882020 @default.
• W2003647788 countsByYear W20036477882021 @default.
• W2003647788 countsByYear W20036477882022 @default.
• W2003647788 countsByYear W20036477882023 @default.
• W2003647788 crossrefType "journal-article" @default.
• W2003647788 hasAuthorship W2003647788A5001979226 @default.
• W2003647788 hasAuthorship W2003647788A5003944792 @default.
• W2003647788 hasAuthorship W2003647788A5005396213 @default.
• W2003647788 hasAuthorship W2003647788A5005679926 @default.
• W2003647788 hasAuthorship W2003647788A5006818641 @default.
• W2003647788 hasAuthorship W2003647788A5008034163 @default.
• W2003647788 hasAuthorship W2003647788A5034262534 @default.
• W2003647788 hasAuthorship W2003647788A5036734448 @default.
• W2003647788 hasAuthorship W2003647788A5037402564 @default.
• W2003647788 hasAuthorship W2003647788A5039232873 @default.
• W2003647788 hasAuthorship W2003647788A5040034598 @default.
• W2003647788 hasAuthorship W2003647788A5040920280 @default.
• W2003647788 hasAuthorship W2003647788A5041355508 @default.
• W2003647788 hasAuthorship W2003647788A5052347118 @default.
• W2003647788 hasAuthorship W2003647788A5054547740 @default.
• W2003647788 hasAuthorship W2003647788A5058914787 @default.
• W2003647788 hasAuthorship W2003647788A5069437620 @default.
• W2003647788 hasAuthorship W2003647788A5079004855 @default.
• W2003647788 hasAuthorship W2003647788A5082672898 @default.
• W2003647788 hasAuthorship W2003647788A5086175988 @default.
• W2003647788 hasBestOaLocation W20036477881 @default.
• W2003647788 hasConcept C104317684 @default.
• W2003647788 hasConcept C136238340 @default.
• W2003647788 hasConcept C142724271 @default.
• W2003647788 hasConcept C203750385 @default.
• W2003647788 hasConcept C2778965386 @default.
• W2003647788 hasConcept C2779134260 @default.
• W2003647788 hasConcept C2779483572 @default.
• W2003647788 hasConcept C501734568 @default.
• W2003647788 hasConcept C54355233 @default.
• W2003647788 hasConcept C547475151 @default.

• next