FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1550826473> ?p ?o ?g. }

• W1550826473 endingPage "1893" @default.
• W1550826473 startingPage "1881" @default.
• W1550826473 abstract "Familial hypercholesterolemia is an autosomal dominant disease caused by mutations in the gene encoding the low-density lipoprotein receptor. To date, more than 900 different mutations have been described. Transport-defective mutations (class 2) causing partial or complete retention of the receptor in the endoplasmic reticulum are the predominant class of mutations. In a cell culture system (Chinese hamster ovary cells), we show that chemical chaperones are able to mediate rescue of a transport-defective mutant (G544V), and that the ability to obtain rescue is mutation dependent. In particular, the low molecular mass fatty acid derivative 4-phenylbutyrate mediated a marked increase in the transport of G544V-mutant low-density lipoprotein receptor to the plasma membrane. Thirty per cent of the mutant receptor was able to escape from the endoplasmic reticulum and reach the cell surface. The rescued receptor had reduced stability, but was found to be as efficient as the wild-type low-density lipoprotein receptor in binding and internalizing low-density lipoprotein. In addition to 4-phenylbutyrate, we also studied 3-phenylpropionate and 5-phenylvalerate, and compared their effect on rescue of the G544V-mutant low-density lipoprotein receptor with their ability to increase overall gene expression caused by their histone deacetylase inhibitor activity. No correlation was found. Our results indicate that the effect of these agents was not solely mediated by their ability to induce gene expression of proteins involved in intracellular transport, but rather could be due to a direct chemical chaperone activity. These data suggest that rescue of mutant low-density lipoprotein receptor is possible and that it might be feasible to develop pharmacologic chaperones to treat familial hypercholesterolemia patients with class 2 mutations." @default.
• W1550826473 created "2016-06-24" @default.
• W1550826473 creator A5009725281 @default.
• W1550826473 creator A5025347732 @default.
• W1550826473 creator A5036117078 @default.
• W1550826473 creator A5073826609 @default.
• W1550826473 creator A5089364900 @default.
• W1550826473 creator A5089437533 @default.
• W1550826473 date "2007-03-05" @default.
• W1550826473 modified "2023-10-16" @default.
• W1550826473 title "4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor" @default.
• W1550826473 cites W1101787970 @default.
• W1550826473 cites W1504237050 @default.
• W1550826473 cites W1546031868 @default.
• W1550826473 cites W1775349986 @default.
• W1550826473 cites W1955186839 @default.
• W1550826473 cites W1981551685 @default.
• W1550826473 cites W1987032363 @default.
• W1550826473 cites W1989665007 @default.
• W1550826473 cites W1989746014 @default.
• W1550826473 cites W1990458521 @default.
• W1550826473 cites W1991103963 @default.
• W1550826473 cites W1991671803 @default.
• W1550826473 cites W1997811592 @default.
• W1550826473 cites W1999758667 @default.
• W1550826473 cites W2020293117 @default.
• W1550826473 cites W2021291490 @default.
• W1550826473 cites W2023397454 @default.
• W1550826473 cites W2026357888 @default.
• W1550826473 cites W2040211383 @default.
• W1550826473 cites W2045589999 @default.
• W1550826473 cites W2048796422 @default.
• W1550826473 cites W2054159211 @default.
• W1550826473 cites W2057394745 @default.
• W1550826473 cites W2057511642 @default.
• W1550826473 cites W2064712257 @default.
• W1550826473 cites W2070580285 @default.
• W1550826473 cites W2073727172 @default.
• W1550826473 cites W2077611471 @default.
• W1550826473 cites W2082543317 @default.
• W1550826473 cites W2084744450 @default.
• W1550826473 cites W2092291840 @default.
• W1550826473 cites W2099049651 @default.
• W1550826473 cites W2109854496 @default.
• W1550826473 cites W2120297447 @default.
• W1550826473 cites W2121390857 @default.
• W1550826473 cites W2127942339 @default.
• W1550826473 cites W2137646210 @default.
• W1550826473 cites W2151260917 @default.
• W1550826473 cites W2153439292 @default.
• W1550826473 cites W2167994535 @default.
• W1550826473 cites W2170370146 @default.
• W1550826473 cites W2171850804 @default.
• W1550826473 cites W2181673250 @default.
• W1550826473 cites W2314936871 @default.
• W1550826473 cites W2411536547 @default.
• W1550826473 cites W2412159450 @default.
• W1550826473 cites W97810949 @default.
• W1550826473 doi "https://doi.org/10.1111/j.1742-4658.2007.05735.x" @default.
• W1550826473 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17408384" @default.
• W1550826473 hasPublicationYear "2007" @default.
• W1550826473 type Work @default.
• W1550826473 sameAs 1550826473 @default.
• W1550826473 citedByCount "58" @default.
• W1550826473 countsByYear W15508264732012 @default.
• W1550826473 countsByYear W15508264732013 @default.
• W1550826473 countsByYear W15508264732014 @default.
• W1550826473 countsByYear W15508264732015 @default.
• W1550826473 countsByYear W15508264732016 @default.
• W1550826473 countsByYear W15508264732017 @default.
• W1550826473 countsByYear W15508264732018 @default.
• W1550826473 countsByYear W15508264732019 @default.
• W1550826473 countsByYear W15508264732020 @default.
• W1550826473 countsByYear W15508264732023 @default.
• W1550826473 crossrefType "journal-article" @default.
• W1550826473 hasAuthorship W1550826473A5009725281 @default.
• W1550826473 hasAuthorship W1550826473A5025347732 @default.
• W1550826473 hasAuthorship W1550826473A5036117078 @default.
• W1550826473 hasAuthorship W1550826473A5073826609 @default.
• W1550826473 hasAuthorship W1550826473A5089364900 @default.
• W1550826473 hasAuthorship W1550826473A5089437533 @default.
• W1550826473 hasBestOaLocation W15508264731 @default.
• W1550826473 hasConcept C104317684 @default.
• W1550826473 hasConcept C134018914 @default.
• W1550826473 hasConcept C139447449 @default.
• W1550826473 hasConcept C143065580 @default.
• W1550826473 hasConcept C158617107 @default.
• W1550826473 hasConcept C170493617 @default.
• W1550826473 hasConcept C175656101 @default.
• W1550826473 hasConcept C185592680 @default.
• W1550826473 hasConcept C2778163477 @default.
• W1550826473 hasConcept C2780072125 @default.
• W1550826473 hasConcept C2909310144 @default.
• W1550826473 hasConcept C43554185 @default.
• W1550826473 hasConcept C55493867 @default.
• W1550826473 hasConcept C61397870 @default.
• W1550826473 hasConcept C86803240 @default.
• W1550826473 hasConcept C95444343 @default.

• next