FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2066951504> ?p ?o ?g. }

• W2066951504 endingPage "164" @default.
• W2066951504 startingPage "160" @default.
• W2066951504 abstract "Background The glycosphingolipid storage disorder GM1-gangliosidosis is a severe neurodegenerative condition for which no therapy is currently available. Protein misfolding in lysosomal defects may have the potential to be corrected by chemical chaperones: in vitro and clinical approaches are being investigated. Aims We investigated the in vitro effect of galactose on some lysosomal hydrolases, and its in vitro efficacy as a chemical chaperone in GM1-gangliosidosis. Methods Galactose was added to the culture medium of fibroblasts from patients, controls and transfected COS-1 cells. Enzyme assays of lysosomal hydrolases, beta galactosidase in particular, were performed. Results Our data show that galactose alters selectively alpha and beta galactosidases. A significant increase (2,5 fold) in beta galactosidase activity occurred when galactose was added to the cultured fibroblasts of an adult patient. Chemical chaperone therapy requires the presence of residual enzyme activity. The adult patient here reported is heterozygous for the p.T329A mutation that showed no beta galactosidase activity, and for the p.R442Q mutation with residual enzyme activity. The p.R442Q mutation was therefore selected as a potential target for the galactose chaperone; after the addition of galactose, COS-1 cells transfected with this mutation showed an increase in beta galactosidase activity from 6.9% to 12% of control values. Conclusions These results suggest that galactose or its derivatives with potential chaperone properties could be used in the development of non-invasive therapies for GM1-gangliosidosis." @default.
• W2066951504 created "2016-06-24" @default.
• W2066951504 creator A5004665891 @default.
• W2066951504 creator A5009870571 @default.
• W2066951504 creator A5028428376 @default.
• W2066951504 creator A5039295512 @default.
• W2066951504 creator A5061268491 @default.
• W2066951504 creator A5074222588 @default.
• W2066951504 creator A5082595568 @default.
• W2066951504 date "2009-03-01" @default.
• W2066951504 modified "2023-10-17" @default.
• W2066951504 title "The potential action of galactose as a “chemical chaperone”: Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient" @default.
• W2066951504 cites W1527172969 @default.
• W2066951504 cites W153676421 @default.
• W2066951504 cites W1576168172 @default.
• W2066951504 cites W1595759126 @default.
• W2066951504 cites W1597854169 @default.
• W2066951504 cites W1758125525 @default.
• W2066951504 cites W1935024944 @default.
• W2066951504 cites W1966829731 @default.
• W2066951504 cites W1972067769 @default.
• W2066951504 cites W1977928081 @default.
• W2066951504 cites W1979186944 @default.
• W2066951504 cites W1983293150 @default.
• W2066951504 cites W2010382454 @default.
• W2066951504 cites W2017077683 @default.
• W2066951504 cites W2084318635 @default.
• W2066951504 cites W2107622480 @default.
• W2066951504 cites W2123217727 @default.
• W2066951504 cites W2127501479 @default.
• W2066951504 cites W2147001430 @default.
• W2066951504 cites W2334691957 @default.
• W2066951504 cites W3191861677 @default.
• W2066951504 doi "https://doi.org/10.1016/j.ejpn.2008.03.004" @default.
• W2066951504 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18571950" @default.
• W2066951504 hasPublicationYear "2009" @default.
• W2066951504 type Work @default.
• W2066951504 sameAs 2066951504 @default.
• W2066951504 citedByCount "30" @default.
• W2066951504 countsByYear W20669515042012 @default.
• W2066951504 countsByYear W20669515042013 @default.
• W2066951504 countsByYear W20669515042014 @default.
• W2066951504 countsByYear W20669515042016 @default.
• W2066951504 countsByYear W20669515042017 @default.
• W2066951504 countsByYear W20669515042019 @default.
• W2066951504 countsByYear W20669515042021 @default.
• W2066951504 countsByYear W20669515042023 @default.
• W2066951504 crossrefType "journal-article" @default.
• W2066951504 hasAuthorship W2066951504A5004665891 @default.
• W2066951504 hasAuthorship W2066951504A5009870571 @default.
• W2066951504 hasAuthorship W2066951504A5028428376 @default.
• W2066951504 hasAuthorship W2066951504A5039295512 @default.
• W2066951504 hasAuthorship W2066951504A5061268491 @default.
• W2066951504 hasAuthorship W2066951504A5074222588 @default.
• W2066951504 hasAuthorship W2066951504A5082595568 @default.
• W2066951504 hasConcept C104317684 @default.
• W2066951504 hasConcept C126322002 @default.
• W2066951504 hasConcept C142724271 @default.
• W2066951504 hasConcept C143065580 @default.
• W2066951504 hasConcept C150194340 @default.
• W2066951504 hasConcept C181199279 @default.
• W2066951504 hasConcept C185592680 @default.
• W2066951504 hasConcept C202751555 @default.
• W2066951504 hasConcept C2775962898 @default.
• W2066951504 hasConcept C2776788019 @default.
• W2066951504 hasConcept C2777249184 @default.
• W2066951504 hasConcept C2777404818 @default.
• W2066951504 hasConcept C2777878887 @default.
• W2066951504 hasConcept C2778173381 @default.
• W2066951504 hasConcept C2779134260 @default.
• W2066951504 hasConcept C28212737 @default.
• W2066951504 hasConcept C43053761 @default.
• W2066951504 hasConcept C55493867 @default.
• W2066951504 hasConcept C61397870 @default.
• W2066951504 hasConcept C71924100 @default.
• W2066951504 hasConceptScore W2066951504C104317684 @default.
• W2066951504 hasConceptScore W2066951504C126322002 @default.
• W2066951504 hasConceptScore W2066951504C142724271 @default.
• W2066951504 hasConceptScore W2066951504C143065580 @default.
• W2066951504 hasConceptScore W2066951504C150194340 @default.
• W2066951504 hasConceptScore W2066951504C181199279 @default.
• W2066951504 hasConceptScore W2066951504C185592680 @default.
• W2066951504 hasConceptScore W2066951504C202751555 @default.
• W2066951504 hasConceptScore W2066951504C2775962898 @default.
• W2066951504 hasConceptScore W2066951504C2776788019 @default.
• W2066951504 hasConceptScore W2066951504C2777249184 @default.
• W2066951504 hasConceptScore W2066951504C2777404818 @default.
• W2066951504 hasConceptScore W2066951504C2777878887 @default.
• W2066951504 hasConceptScore W2066951504C2778173381 @default.
• W2066951504 hasConceptScore W2066951504C2779134260 @default.
• W2066951504 hasConceptScore W2066951504C28212737 @default.
• W2066951504 hasConceptScore W2066951504C43053761 @default.
• W2066951504 hasConceptScore W2066951504C55493867 @default.
• W2066951504 hasConceptScore W2066951504C61397870 @default.
• W2066951504 hasConceptScore W2066951504C71924100 @default.
• W2066951504 hasIssue "2" @default.
• W2066951504 hasLocation W20669515041 @default.
• W2066951504 hasLocation W20669515042 @default.

• next