FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1970216170> ?p ?o ?g. }

• W1970216170 endingPage "332" @default.
• W1970216170 startingPage "326" @default.
• W1970216170 abstract "Mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene are responsible for hypophosphatasia, an inborn error of bone and teeth metabolism associated with reduced levels of serum alkaline phosphatase activity. A missense mutation (c.346G>A) of TNSALP gene, which converts Ala to Thr at position 116 (according to standardized nomenclature), was reported in dominantly transmitted hypophosphatasia patients (A.S. Lia-Baldini et al. Hum Genet. 109 (2001) 99-108). To investigate molecular phenotype of TNSALP (A116T), we expressed it in the COS-1 cells or Tet-On CHO K1 cells. TNSALP (A116T) displayed not only negligible alkaline phosphatase activity, but also a weak dominant negative effect when co-expressed with the wild-type enzyme. In contrast to TNSALP (W, wild-type), which was present mostly as a non-covalently assembled homodimeric form, TNSALP (A116T) was found to exist as a monomer and heterogeneously associated aggregates covalently linked via disulfide bonds. Interestingly, both the monomer and aggregate forms of TNSALP (A116T) gained access to the cell surface and were anchored to the cell membrane via glycosylphosphatidylinositol (GPI). Co-expression of secretory forms of TNSALP (W) and TNSALP (A116T), which are engineered to replace the C-terminal GPI anchor with a tag sequence (his-tag or flag-tag), resulted in the release of heteromeric complexes consisting of TNSALP (W)-his and TNSALP (A116T)-flag. Taken together, these findings strongly suggest that TNSALP (A116T) fails to fold properly and forms disulfide-bonded aggregates, though it is indeed capable of interacting with the wild-type and reaching the cell surface, therefore explaining its dominant transmission." @default.
• W1970216170 created "2016-06-24" @default.
• W1970216170 creator A5079321350 @default.
• W1970216170 creator A5079773896 @default.
• W1970216170 creator A5082765614 @default.
• W1970216170 date "2011-03-01" @default.
• W1970216170 modified "2023-09-27" @default.
• W1970216170 title "Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia" @default.
• W1970216170 cites W1480143549 @default.
• W1970216170 cites W1539631765 @default.
• W1970216170 cites W1835722024 @default.
• W1970216170 cites W1899890323 @default.
• W1970216170 cites W1977031949 @default.
• W1970216170 cites W1978645682 @default.
• W1970216170 cites W1987500038 @default.
• W1970216170 cites W2007838858 @default.
• W1970216170 cites W2009928006 @default.
• W1970216170 cites W2010362565 @default.
• W1970216170 cites W2012850243 @default.
• W1970216170 cites W2028859231 @default.
• W1970216170 cites W2029511322 @default.
• W1970216170 cites W2050680180 @default.
• W1970216170 cites W2066650336 @default.
• W1970216170 cites W2069533904 @default.
• W1970216170 cites W2091001452 @default.
• W1970216170 cites W2094832386 @default.
• W1970216170 cites W2096126850 @default.
• W1970216170 cites W2128924278 @default.
• W1970216170 cites W2141103280 @default.
• W1970216170 cites W4231409436 @default.
• W1970216170 cites W4234280043 @default.
• W1970216170 doi "https://doi.org/10.1016/j.bbadis.2010.12.002" @default.
• W1970216170 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21168482" @default.
• W1970216170 hasPublicationYear "2011" @default.
• W1970216170 type Work @default.
• W1970216170 sameAs 1970216170 @default.
• W1970216170 citedByCount "19" @default.
• W1970216170 countsByYear W19702161702012 @default.
• W1970216170 countsByYear W19702161702013 @default.
• W1970216170 countsByYear W19702161702015 @default.
• W1970216170 countsByYear W19702161702016 @default.
• W1970216170 countsByYear W19702161702017 @default.
• W1970216170 countsByYear W19702161702018 @default.
• W1970216170 countsByYear W19702161702019 @default.
• W1970216170 countsByYear W19702161702020 @default.
• W1970216170 countsByYear W19702161702021 @default.
• W1970216170 crossrefType "journal-article" @default.
• W1970216170 hasAuthorship W1970216170A5079321350 @default.
• W1970216170 hasAuthorship W1970216170A5079773896 @default.
• W1970216170 hasAuthorship W1970216170A5082765614 @default.
• W1970216170 hasBestOaLocation W19702161702 @default.
• W1970216170 hasConcept C104317684 @default.
• W1970216170 hasConcept C153911025 @default.
• W1970216170 hasConcept C160160445 @default.
• W1970216170 hasConcept C178790620 @default.
• W1970216170 hasConcept C180577832 @default.
• W1970216170 hasConcept C181199279 @default.
• W1970216170 hasConcept C185592680 @default.
• W1970216170 hasConcept C2778471162 @default.
• W1970216170 hasConcept C501734568 @default.
• W1970216170 hasConcept C55493867 @default.
• W1970216170 hasConcept C75563809 @default.
• W1970216170 hasConcept C86803240 @default.
• W1970216170 hasConceptScore W1970216170C104317684 @default.
• W1970216170 hasConceptScore W1970216170C153911025 @default.
• W1970216170 hasConceptScore W1970216170C160160445 @default.
• W1970216170 hasConceptScore W1970216170C178790620 @default.
• W1970216170 hasConceptScore W1970216170C180577832 @default.
• W1970216170 hasConceptScore W1970216170C181199279 @default.
• W1970216170 hasConceptScore W1970216170C185592680 @default.
• W1970216170 hasConceptScore W1970216170C2778471162 @default.
• W1970216170 hasConceptScore W1970216170C501734568 @default.
• W1970216170 hasConceptScore W1970216170C55493867 @default.
• W1970216170 hasConceptScore W1970216170C75563809 @default.
• W1970216170 hasConceptScore W1970216170C86803240 @default.
• W1970216170 hasFunder F4320320912 @default.
• W1970216170 hasIssue "3" @default.
• W1970216170 hasLocation W19702161701 @default.
• W1970216170 hasLocation W19702161702 @default.
• W1970216170 hasLocation W19702161703 @default.
• W1970216170 hasLocation W19702161704 @default.
• W1970216170 hasLocation W19702161705 @default.
• W1970216170 hasOpenAccess W1970216170 @default.
• W1970216170 hasPrimaryLocation W19702161701 @default.
• W1970216170 hasRelatedWork W1963914857 @default.
• W1970216170 hasRelatedWork W1996058105 @default.
• W1970216170 hasRelatedWork W2013628890 @default.
• W1970216170 hasRelatedWork W2037826027 @default.
• W1970216170 hasRelatedWork W2056103605 @default.
• W1970216170 hasRelatedWork W2082065853 @default.
• W1970216170 hasRelatedWork W2159682693 @default.
• W1970216170 hasRelatedWork W2615989187 @default.
• W1970216170 hasRelatedWork W3030508478 @default.
• W1970216170 hasRelatedWork W4231690405 @default.
• W1970216170 hasVolume "1812" @default.
• W1970216170 isParatext "false" @default.
• W1970216170 isRetracted "false" @default.
• W1970216170 magId "1970216170" @default.

• next