FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2091001452> ?p ?o ?g. }

• W2091001452 endingPage "473" @default.
• W2091001452 startingPage "473" @default.
• W2091001452 abstract "Tissue-non-specific alkaline phosphatase (TNSALP) is an ectoenzyme anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). A TNSALP mutant with an Asn(153)-->Asp (N153D) substitution was reported in a foetus diagnosed with perinatal hypophosphatasia (Mornet, Taillandier, Peyramaure, Kaper, Muller, Brenner, Bussiere, Freisinger, Godard, Merrer et al. (1998) Eur. J. Hum. Genet. 6, 308-314). When expressed ectopically in COS-1 cells, the wild-type TNSALP formed active non-covalently associated dimers, whereas TNSALP (N153D) formed aberrant disulphide-bonded high-molecular-mass aggregates devoid of enzyme activity. Cell-surface biotinylation and digestion with phosphatidylinositol-specific phospholipase C showed that TNSALP (N153D) failed to reach the cell surface. Instead, double immunofluorescence demonstrated that TNSALP (N153D) partially co-localized with a cis-Golgi marker (GM-130) at the steady-state. Upon treatment with brefeldin A, TNSALP (N153D) was still co-localized with GM-130, further supporting the finding that this mutant is localized in the cis-Golgi. Consistent with morphological results, pulse-chase experiments showed that newly synthesized TNSALP (N153D) remained endo-beta-N-acetylglucosaminidase H-sensitive throughout the chase. Eventually, after a prolonged chase time, the mutant was found to be partly degraded in a proteasome-dependent manner. Since the mutant TNSALP was significantly labelled with [3H]ethanolamine, a component of GPI, comparable with the wild-type enzyme, it is unlikely that the abortive synthesis of the mutant is due to a defect in GPI-attachment. Interestingly, when asparagine was replaced by glutamine at position 153 (N153D), TNSALP (N153Q) was indistinguishable from the wild-type enzyme in terms of its molecular properties, suggesting the possible importance of amino acids with a polar amide group at position 153. Taken together, these findings indicate that replacing asparagine with aspartic acid at position 153 causes misfolding and incorrect assembly of TNSALP, which results in its retention at the cis-Golgi en route to the cell surface, followed by a delayed degradation, presumably as part of a quality-control process. We postulate that the molecular basis of the perinatal hypophosphatasia associated with TNSALP (N153D) is due to the absence of mature TNSALP at the cell surface." @default.
• W2091001452 created "2016-06-24" @default.
• W2091001452 creator A5008912799 @default.
• W2091001452 creator A5071810045 @default.
• W2091001452 creator A5075330695 @default.
• W2091001452 creator A5079773896 @default.
• W2091001452 date "2002-02-01" @default.
• W2091001452 modified "2023-10-16" @default.
• W2091001452 title "Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153→Asp substitution, a cause of perinatal hypophosphatasia" @default.
• W2091001452 cites W1589445078 @default.
• W2091001452 cites W1972796001 @default.
• W2091001452 cites W1974066151 @default.
• W2091001452 cites W1977031949 @default.
• W2091001452 cites W1979632227 @default.
• W2091001452 cites W1990019150 @default.
• W2091001452 cites W2001258881 @default.
• W2091001452 cites W2006742182 @default.
• W2091001452 cites W2008544782 @default.
• W2091001452 cites W2010362565 @default.
• W2091001452 cites W2013628890 @default.
• W2091001452 cites W2018289835 @default.
• W2091001452 cites W2029511322 @default.
• W2091001452 cites W2041451989 @default.
• W2091001452 cites W2045893780 @default.
• W2091001452 cites W2056825523 @default.
• W2091001452 cites W2066051011 @default.
• W2091001452 cites W2082446278 @default.
• W2091001452 cites W2085362415 @default.
• W2091001452 cites W2087662274 @default.
• W2091001452 cites W2092762214 @default.
• W2091001452 cites W2093633290 @default.
• W2091001452 cites W2100837269 @default.
• W2091001452 cites W2101496534 @default.
• W2091001452 cites W2105950951 @default.
• W2091001452 cites W2113736802 @default.
• W2091001452 cites W2114857960 @default.
• W2091001452 cites W2121905958 @default.
• W2091001452 cites W2131879548 @default.
• W2091001452 cites W2141103280 @default.
• W2091001452 cites W2149761960 @default.
• W2091001452 cites W2168370663 @default.
• W2091001452 cites W2318843727 @default.
• W2091001452 doi "https://doi.org/10.1042/0264-6021:3610473" @default.
• W2091001452 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1222329" @default.
• W2091001452 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11802776" @default.
• W2091001452 hasPublicationYear "2002" @default.
• W2091001452 type Work @default.
• W2091001452 sameAs 2091001452 @default.
• W2091001452 citedByCount "24" @default.
• W2091001452 countsByYear W20910014522012 @default.
• W2091001452 countsByYear W20910014522013 @default.
• W2091001452 countsByYear W20910014522014 @default.
• W2091001452 countsByYear W20910014522015 @default.
• W2091001452 countsByYear W20910014522016 @default.
• W2091001452 countsByYear W20910014522019 @default.
• W2091001452 countsByYear W20910014522020 @default.
• W2091001452 countsByYear W20910014522022 @default.
• W2091001452 crossrefType "journal-article" @default.
• W2091001452 hasAuthorship W2091001452A5008912799 @default.
• W2091001452 hasAuthorship W2091001452A5071810045 @default.
• W2091001452 hasAuthorship W2091001452A5075330695 @default.
• W2091001452 hasAuthorship W2091001452A5079773896 @default.
• W2091001452 hasBestOaLocation W20910014522 @default.
• W2091001452 hasConcept C104317684 @default.
• W2091001452 hasConcept C119062480 @default.
• W2091001452 hasConcept C143065580 @default.
• W2091001452 hasConcept C153911025 @default.
• W2091001452 hasConcept C158617107 @default.
• W2091001452 hasConcept C160160445 @default.
• W2091001452 hasConcept C181199279 @default.
• W2091001452 hasConcept C185592680 @default.
• W2091001452 hasConcept C2778471162 @default.
• W2091001452 hasConcept C55493867 @default.
• W2091001452 hasConcept C86803240 @default.
• W2091001452 hasConceptScore W2091001452C104317684 @default.
• W2091001452 hasConceptScore W2091001452C119062480 @default.
• W2091001452 hasConceptScore W2091001452C143065580 @default.
• W2091001452 hasConceptScore W2091001452C153911025 @default.
• W2091001452 hasConceptScore W2091001452C158617107 @default.
• W2091001452 hasConceptScore W2091001452C160160445 @default.
• W2091001452 hasConceptScore W2091001452C181199279 @default.
• W2091001452 hasConceptScore W2091001452C185592680 @default.
• W2091001452 hasConceptScore W2091001452C2778471162 @default.
• W2091001452 hasConceptScore W2091001452C55493867 @default.
• W2091001452 hasConceptScore W2091001452C86803240 @default.
• W2091001452 hasIssue "3" @default.
• W2091001452 hasLocation W20910014521 @default.
• W2091001452 hasLocation W20910014522 @default.
• W2091001452 hasLocation W20910014523 @default.
• W2091001452 hasLocation W20910014524 @default.
• W2091001452 hasOpenAccess W2091001452 @default.
• W2091001452 hasPrimaryLocation W20910014521 @default.
• W2091001452 hasRelatedWork W2001828696 @default.
• W2091001452 hasRelatedWork W2009464217 @default.
• W2091001452 hasRelatedWork W2020579876 @default.
• W2091001452 hasRelatedWork W2024518802 @default.
• W2091001452 hasRelatedWork W2045542783 @default.
• W2091001452 hasRelatedWork W2067143269 @default.

• next