FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2593670462> ?p ?o ?g. }

• W2593670462 endingPage "623" @default.
• W2593670462 startingPage "613" @default.
• W2593670462 abstract "Background: Presenilin-1 (PSEN1) is the most frequently mutated gene in familial Alzheimer’s disease (AD), whereas only several novel mutations have been reported in China and functional studies were seldom conducted. Objective: We describe a novel PSEN1 K311R mutation in two Chinese families with late-onset AD and its functional impact on amyloid-β protein precursor (AβPP) processing and tau phosphorylation. Methods: The mutation was detected by direct sequencing of PSEN1 exon 9. HEK293 cells stably expressing wild-type APP695 (HEK293-APP695wt) were transfected with plasmids containing human wild-type PSEN1, PSEN1 K311R mutation, and PSEN1 E280A mutation to compare the K311R mutation’s effects on AβPP processing with other groups. In addition, each group of cells were co-transfected with plasmids harboring PSEN1 and human wild-type MAPT complementary DNA to study the mutation’s impacts on tau phosphorylation. Results: The K311R mutation was detected in probands of two late-onset AD families. Expression of the K311R or E280A mutation increased amyloid-β (Aβ)42 levels but decreased Aβ40 levels, resulting in an overall increase in the Aβ42/Aβ40 ratio compared to those in wild-type PSEN1 transfected cells (p < 0.05). The K311R or E280A mutation also increased the levels of phosphorylated tau compared to wild-type PSEN1 (p < 0.05). Conclusion: The K311R mutation might contribute to AD pathogenesis by overproducing toxic Aβ species and enhancing tau phosphorylation. Further in-depth studies are needed to decipher the pathogenic mechanisms of the K311R mutation in terms of AβPP cleavage, tau phosphorylation, and other presenilin-1 mediated functional pathways." @default.
• W2593670462 created "2017-03-16" @default.
• W2593670462 creator A5001899234 @default.
• W2593670462 creator A5002413621 @default.
• W2593670462 creator A5015195367 @default.
• W2593670462 creator A5026660665 @default.
• W2593670462 creator A5056412091 @default.
• W2593670462 creator A5079873709 @default.
• W2593670462 date "2017-03-21" @default.
• W2593670462 modified "2023-09-27" @default.
• W2593670462 title "A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer’s Disease Affects Amyloid-β Production and Tau Phosphorylation" @default.
• W2593670462 cites W1260792146 @default.
• W2593670462 cites W1965185022 @default.
• W2593670462 cites W1965440631 @default.
• W2593670462 cites W1966227821 @default.
• W2593670462 cites W1970917187 @default.
• W2593670462 cites W1970929361 @default.
• W2593670462 cites W1971566665 @default.
• W2593670462 cites W1972934209 @default.
• W2593670462 cites W1973614276 @default.
• W2593670462 cites W1975085324 @default.
• W2593670462 cites W1991518782 @default.
• W2593670462 cites W1996917933 @default.
• W2593670462 cites W2024401256 @default.
• W2593670462 cites W2028426466 @default.
• W2593670462 cites W2031102482 @default.
• W2593670462 cites W2053791137 @default.
• W2593670462 cites W2061524805 @default.
• W2593670462 cites W2072804535 @default.
• W2593670462 cites W2080855394 @default.
• W2593670462 cites W2088152552 @default.
• W2593670462 cites W2088211313 @default.
• W2593670462 cites W2089586561 @default.
• W2593670462 cites W2102514683 @default.
• W2593670462 cites W2111774300 @default.
• W2593670462 cites W2129086716 @default.
• W2593670462 cites W2147755473 @default.
• W2593670462 cites W2149104710 @default.
• W2593670462 cites W2156220037 @default.
• W2593670462 cites W2160869575 @default.
• W2593670462 cites W2170724596 @default.
• W2593670462 cites W4211156109 @default.
• W2593670462 cites W4245988844 @default.
• W2593670462 cites W4371576207 @default.
• W2593670462 doi "https://doi.org/10.3233/jad-161188" @default.
• W2593670462 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28269784" @default.
• W2593670462 hasPublicationYear "2017" @default.
• W2593670462 type Work @default.
• W2593670462 sameAs 2593670462 @default.
• W2593670462 citedByCount "10" @default.
• W2593670462 countsByYear W25936704622018 @default.
• W2593670462 countsByYear W25936704622019 @default.
• W2593670462 countsByYear W25936704622020 @default.
• W2593670462 countsByYear W25936704622021 @default.
• W2593670462 countsByYear W25936704622022 @default.
• W2593670462 crossrefType "journal-article" @default.
• W2593670462 hasAuthorship W2593670462A5001899234 @default.
• W2593670462 hasAuthorship W2593670462A5002413621 @default.
• W2593670462 hasAuthorship W2593670462A5015195367 @default.
• W2593670462 hasAuthorship W2593670462A5026660665 @default.
• W2593670462 hasAuthorship W2593670462A5056412091 @default.
• W2593670462 hasAuthorship W2593670462A5079873709 @default.
• W2593670462 hasConcept C104317684 @default.
• W2593670462 hasConcept C11960822 @default.
• W2593670462 hasConcept C126322002 @default.
• W2593670462 hasConcept C143065580 @default.
• W2593670462 hasConcept C153911025 @default.
• W2593670462 hasConcept C175344181 @default.
• W2593670462 hasConcept C207583985 @default.
• W2593670462 hasConcept C2776485563 @default.
• W2593670462 hasConcept C2779134260 @default.
• W2593670462 hasConcept C36823959 @default.
• W2593670462 hasConcept C501734568 @default.
• W2593670462 hasConcept C502032728 @default.
• W2593670462 hasConcept C54009773 @default.
• W2593670462 hasConcept C54355233 @default.
• W2593670462 hasConcept C71924100 @default.
• W2593670462 hasConcept C86803240 @default.
• W2593670462 hasConceptScore W2593670462C104317684 @default.
• W2593670462 hasConceptScore W2593670462C11960822 @default.
• W2593670462 hasConceptScore W2593670462C126322002 @default.
• W2593670462 hasConceptScore W2593670462C143065580 @default.
• W2593670462 hasConceptScore W2593670462C153911025 @default.
• W2593670462 hasConceptScore W2593670462C175344181 @default.
• W2593670462 hasConceptScore W2593670462C207583985 @default.
• W2593670462 hasConceptScore W2593670462C2776485563 @default.
• W2593670462 hasConceptScore W2593670462C2779134260 @default.
• W2593670462 hasConceptScore W2593670462C36823959 @default.
• W2593670462 hasConceptScore W2593670462C501734568 @default.
• W2593670462 hasConceptScore W2593670462C502032728 @default.
• W2593670462 hasConceptScore W2593670462C54009773 @default.
• W2593670462 hasConceptScore W2593670462C54355233 @default.
• W2593670462 hasConceptScore W2593670462C71924100 @default.
• W2593670462 hasConceptScore W2593670462C86803240 @default.
• W2593670462 hasIssue "2" @default.
• W2593670462 hasLocation W25936704621 @default.
• W2593670462 hasLocation W25936704622 @default.
• W2593670462 hasOpenAccess W2593670462 @default.

• next