Matches in SemOpenAlex for { <https://semopenalex.org/work/W1669732930> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W1669732930 endingPage "168" @default.
- W1669732930 startingPage "165" @default.
- W1669732930 abstract "The list of diseases linked to defects in lipid metabolism has recently been augmented by the addition of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS: MIM 260920), which are correlated with depressed levels of mevalonate kinase activity [1,2] and protein [1]. More specifically, a V377I substitution has been proposed to account for this disease. We observed that V377 appears to be far from invariant in eukaryotic mevalonate kinases. Prokaryotic mevalonate kinases are lower in molecular weight and several terminate prior to residue 377 of the eukaryotic proteins. These observations prompted our direct test of the impact of V377 on activity and protein stability by engineering a V377I mutation in a recombinant human mevalonate kinase. The mutant protein has been isolated and kinetically characterized. In comparison with wild-type enzyme, V377I exhibits only modest differences (notably > or = 6-fold inflation of K(m(MVA))) that do not account for the diminished mevalonate kinase activity assayed in HIDS cell extracts. Moreover, thermal inactivation (50 degrees C) of isolated wild-type and V377I enzymes demonstrates little difference in stability between these proteins. We conclude that a single V377I substitution is unlikely to explain the observation of depressed mevalonate kinase stability and catalytic activity in HIDS." @default.
- W1669732930 created "2016-06-24" @default.
- W1669732930 creator A5050113004 @default.
- W1669732930 creator A5060805525 @default.
- W1669732930 creator A5082639093 @default.
- W1669732930 date "2001-04-30" @default.
- W1669732930 modified "2023-09-25" @default.
- W1669732930 title "Characterization of mevalonate kinase V377I, a mutant implicated in defective isoprenoid biosynthesis and HIDS/periodic fever syndrome" @default.
- W1669732930 cites W1596257295 @default.
- W1669732930 cites W1648020310 @default.
- W1669732930 cites W1966043926 @default.
- W1669732930 cites W2011900288 @default.
- W1669732930 cites W2044077883 @default.
- W1669732930 cites W2066145806 @default.
- W1669732930 cites W2126667730 @default.
- W1669732930 cites W2153467733 @default.
- W1669732930 cites W2170165906 @default.
- W1669732930 cites W2170405569 @default.
- W1669732930 doi "https://doi.org/10.1016/s1388-1981(01)00105-6" @default.
- W1669732930 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11325608" @default.
- W1669732930 hasPublicationYear "2001" @default.
- W1669732930 type Work @default.
- W1669732930 sameAs 1669732930 @default.
- W1669732930 citedByCount "11" @default.
- W1669732930 crossrefType "journal-article" @default.
- W1669732930 hasAuthorship W1669732930A5050113004 @default.
- W1669732930 hasAuthorship W1669732930A5060805525 @default.
- W1669732930 hasAuthorship W1669732930A5082639093 @default.
- W1669732930 hasConcept C104317684 @default.
- W1669732930 hasConcept C143065580 @default.
- W1669732930 hasConcept C16884060 @default.
- W1669732930 hasConcept C181199279 @default.
- W1669732930 hasConcept C184235292 @default.
- W1669732930 hasConcept C185592680 @default.
- W1669732930 hasConcept C2779982574 @default.
- W1669732930 hasConcept C553450214 @default.
- W1669732930 hasConcept C55493867 @default.
- W1669732930 hasConcept C86803240 @default.
- W1669732930 hasConcept C90934575 @default.
- W1669732930 hasConcept C95444343 @default.
- W1669732930 hasConcept C97029542 @default.
- W1669732930 hasConceptScore W1669732930C104317684 @default.
- W1669732930 hasConceptScore W1669732930C143065580 @default.
- W1669732930 hasConceptScore W1669732930C16884060 @default.
- W1669732930 hasConceptScore W1669732930C181199279 @default.
- W1669732930 hasConceptScore W1669732930C184235292 @default.
- W1669732930 hasConceptScore W1669732930C185592680 @default.
- W1669732930 hasConceptScore W1669732930C2779982574 @default.
- W1669732930 hasConceptScore W1669732930C553450214 @default.
- W1669732930 hasConceptScore W1669732930C55493867 @default.
- W1669732930 hasConceptScore W1669732930C86803240 @default.
- W1669732930 hasConceptScore W1669732930C90934575 @default.
- W1669732930 hasConceptScore W1669732930C95444343 @default.
- W1669732930 hasConceptScore W1669732930C97029542 @default.
- W1669732930 hasIssue "3" @default.
- W1669732930 hasLocation W16697329301 @default.
- W1669732930 hasLocation W16697329302 @default.
- W1669732930 hasOpenAccess W1669732930 @default.
- W1669732930 hasPrimaryLocation W16697329301 @default.
- W1669732930 hasRelatedWork W107896380 @default.
- W1669732930 hasRelatedWork W131720133 @default.
- W1669732930 hasRelatedWork W169735115 @default.
- W1669732930 hasRelatedWork W2046115627 @default.
- W1669732930 hasRelatedWork W2049388301 @default.
- W1669732930 hasRelatedWork W2149092807 @default.
- W1669732930 hasRelatedWork W2360317430 @default.
- W1669732930 hasRelatedWork W2801483938 @default.
- W1669732930 hasRelatedWork W2925386497 @default.
- W1669732930 hasRelatedWork W950805422 @default.
- W1669732930 hasVolume "1531" @default.
- W1669732930 isParatext "false" @default.
- W1669732930 isRetracted "false" @default.
- W1669732930 magId "1669732930" @default.
- W1669732930 workType "article" @default.