FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1569706781> ?p ?o ?g. }

• W1569706781 endingPage "1961" @default.
• W1569706781 startingPage "1952" @default.
• W1569706781 abstract "Galactosemia is caused by defects in the galactose metabolic pathway, which consists of three enzymes, including UDP-galactose-4-epimerase (GALE). We previously reported nine mutations in Korean patients with epimerase-deficiency galactosemia. In order to determine the functional consequences of these mutations, we expressed wild-type and mutant GALE proteins in 293T cells. GALEE165K and GALEW336X proteins were unstable, had reduced half-life, formed aggregates and were partly degraded by the proteasome complex. When expressed in GALE-null ldlD cells GALEE165K, GALER239W, GALEG302D and GALEW336X had no detectable enzyme activity, although substantial amounts of protein were detected in western blots. The relative activities of other mutants were lower than that of wild-type. In addition, unlike wild-type, GALER239W and GALEG302D were not able to rescue galactose-sensitive cell proliferation when stably expressed in ldlD cells. The four inactive mutant proteins did not show defects in dimerization or affect the activity of other mutant alleles identified in patients. Our observations show that altered protein stability is due to misfolding and that loss or reduction of enzyme activity is responsible for the molecular defects underlying GALE-deficiency galactosemia." @default.
• W1569706781 created "2016-06-24" @default.
• W1569706781 creator A5014484185 @default.
• W1569706781 creator A5023197172 @default.
• W1569706781 creator A5023982303 @default.
• W1569706781 creator A5059670570 @default.
• W1569706781 creator A5076268083 @default.
• W1569706781 creator A5081819949 @default.
• W1569706781 date "2009-02-24" @default.
• W1569706781 modified "2023-10-06" @default.
• W1569706781 title "Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells" @default.
• W1569706781 cites W1483113575 @default.
• W1569706781 cites W1508207816 @default.
• W1569706781 cites W1514714711 @default.
• W1569706781 cites W1681697851 @default.
• W1569706781 cites W1965501888 @default.
• W1569706781 cites W1981998898 @default.
• W1569706781 cites W1983245548 @default.
• W1569706781 cites W1983602468 @default.
• W1569706781 cites W1988146888 @default.
• W1569706781 cites W1992007773 @default.
• W1569706781 cites W1996586948 @default.
• W1569706781 cites W1998274428 @default.
• W1569706781 cites W1998978479 @default.
• W1569706781 cites W2003619459 @default.
• W1569706781 cites W2006120866 @default.
• W1569706781 cites W2009125409 @default.
• W1569706781 cites W2026350419 @default.
• W1569706781 cites W2027920182 @default.
• W1569706781 cites W2034525172 @default.
• W1569706781 cites W2034806888 @default.
• W1569706781 cites W2041985227 @default.
• W1569706781 cites W2042882046 @default.
• W1569706781 cites W2042976838 @default.
• W1569706781 cites W2049515194 @default.
• W1569706781 cites W2052053293 @default.
• W1569706781 cites W2059805074 @default.
• W1569706781 cites W2068023771 @default.
• W1569706781 cites W2090706502 @default.
• W1569706781 cites W2095035085 @default.
• W1569706781 cites W2103724228 @default.
• W1569706781 cites W2112913046 @default.
• W1569706781 cites W2149761960 @default.
• W1569706781 doi "https://doi.org/10.1111/j.1742-4658.2009.06922.x" @default.
• W1569706781 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19250319" @default.
• W1569706781 hasPublicationYear "2009" @default.
• W1569706781 type Work @default.
• W1569706781 sameAs 1569706781 @default.
• W1569706781 citedByCount "23" @default.
• W1569706781 countsByYear W15697067812012 @default.
• W1569706781 countsByYear W15697067812013 @default.
• W1569706781 countsByYear W15697067812014 @default.
• W1569706781 countsByYear W15697067812016 @default.
• W1569706781 countsByYear W15697067812017 @default.
• W1569706781 countsByYear W15697067812019 @default.
• W1569706781 countsByYear W15697067812020 @default.
• W1569706781 countsByYear W15697067812021 @default.
• W1569706781 countsByYear W15697067812022 @default.
• W1569706781 countsByYear W15697067812023 @default.
• W1569706781 crossrefType "journal-article" @default.
• W1569706781 hasAuthorship W1569706781A5014484185 @default.
• W1569706781 hasAuthorship W1569706781A5023197172 @default.
• W1569706781 hasAuthorship W1569706781A5023982303 @default.
• W1569706781 hasAuthorship W1569706781A5059670570 @default.
• W1569706781 hasAuthorship W1569706781A5076268083 @default.
• W1569706781 hasAuthorship W1569706781A5081819949 @default.
• W1569706781 hasConcept C104317684 @default.
• W1569706781 hasConcept C127716648 @default.
• W1569706781 hasConcept C143065580 @default.
• W1569706781 hasConcept C153911025 @default.
• W1569706781 hasConcept C180754005 @default.
• W1569706781 hasConcept C181199279 @default.
• W1569706781 hasConcept C207583985 @default.
• W1569706781 hasConcept C2778173381 @default.
• W1569706781 hasConcept C2779274956 @default.
• W1569706781 hasConcept C2779926675 @default.
• W1569706781 hasConcept C28406088 @default.
• W1569706781 hasConcept C501734568 @default.
• W1569706781 hasConcept C54355233 @default.
• W1569706781 hasConcept C55493867 @default.
• W1569706781 hasConcept C86803240 @default.
• W1569706781 hasConceptScore W1569706781C104317684 @default.
• W1569706781 hasConceptScore W1569706781C127716648 @default.
• W1569706781 hasConceptScore W1569706781C143065580 @default.
• W1569706781 hasConceptScore W1569706781C153911025 @default.
• W1569706781 hasConceptScore W1569706781C180754005 @default.
• W1569706781 hasConceptScore W1569706781C181199279 @default.
• W1569706781 hasConceptScore W1569706781C207583985 @default.
• W1569706781 hasConceptScore W1569706781C2778173381 @default.
• W1569706781 hasConceptScore W1569706781C2779274956 @default.
• W1569706781 hasConceptScore W1569706781C2779926675 @default.
• W1569706781 hasConceptScore W1569706781C28406088 @default.
• W1569706781 hasConceptScore W1569706781C501734568 @default.
• W1569706781 hasConceptScore W1569706781C54355233 @default.
• W1569706781 hasConceptScore W1569706781C55493867 @default.
• W1569706781 hasConceptScore W1569706781C86803240 @default.
• W1569706781 hasIssue "7" @default.
• W1569706781 hasLocation W15697067811 @default.

• next