Matches in SemOpenAlex for { <https://semopenalex.org/work/W1017825101> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W1017825101 abstract "Charcot-Marie-Tooth disorder is the most common inherited peripheral neuropathy, afflicting one in every 2500 Americans. Jordanova et al. have shown that mutation of the tyrosyl-tRNA synthetase gene is responsible for dominant intermediate Charcot Marie Tooth disorder type C (DI-CMTC). Three changes in tyrosyl-tRNA synthetase were found to give rise to DI-CMTC: replacement of G41 by arginine (G41R), replacement of E196 by lysine (E196K), and deletion of amino acids 153-156 (Del(153-156)). To test the hypothesis that DI-CMTC is due to a defect in the catalytic activity of tyrosyl-tRNA synthetase, pre-steady state kinetic methods were used to characterize these three variants. Two of the variants, G41R and Del(153-156), have severe catalytic defects in their ability to activate tyrosine. The third variant (E196K) activates tyrosine and transfers the tyrosyl moiety to tRNATyr with kinetics that are similar to those of the wild type enzyme. This indicates that a defect in the catalytic activity of tyrosyl-tRNA synthetase is not responsible for DI-CMTC. In addition, the stabilities of the DI-CMTC variants did not differ significantly from that of the wild type enzyme. These observations suggest that DI-CMTC is not due to a defect in protein synthesis, raising the possibility that it results from a non-cognate function of tyrosyl-tRNA synthetase. This research is supported by NIH GM 68070 and MDA 4268 to EAF." @default.
- W1017825101 created "2016-06-24" @default.
- W1017825101 creator A5039070916 @default.
- W1017825101 creator A5066158244 @default.
- W1017825101 creator A5067091116 @default.
- W1017825101 creator A5080067170 @default.
- W1017825101 date "2009-04-01" @default.
- W1017825101 modified "2023-09-27" @default.
- W1017825101 title "Is Dominant Intermediate ‐ Charcot‐Marie‐Tooth type C disorder due to a defect in protein synthesis?" @default.
- W1017825101 doi "https://doi.org/10.1096/fasebj.23.1_supplement.497.1" @default.
- W1017825101 hasPublicationYear "2009" @default.
- W1017825101 type Work @default.
- W1017825101 sameAs 1017825101 @default.
- W1017825101 citedByCount "1" @default.
- W1017825101 countsByYear W10178251012023 @default.
- W1017825101 crossrefType "journal-article" @default.
- W1017825101 hasAuthorship W1017825101A5039070916 @default.
- W1017825101 hasAuthorship W1017825101A5066158244 @default.
- W1017825101 hasAuthorship W1017825101A5067091116 @default.
- W1017825101 hasAuthorship W1017825101A5080067170 @default.
- W1017825101 hasConcept C104317684 @default.
- W1017825101 hasConcept C143065580 @default.
- W1017825101 hasConcept C153911025 @default.
- W1017825101 hasConcept C153957851 @default.
- W1017825101 hasConcept C181199279 @default.
- W1017825101 hasConcept C185592680 @default.
- W1017825101 hasConcept C207583985 @default.
- W1017825101 hasConcept C2776165026 @default.
- W1017825101 hasConcept C2776568683 @default.
- W1017825101 hasConcept C2777468819 @default.
- W1017825101 hasConcept C2779315393 @default.
- W1017825101 hasConcept C501734568 @default.
- W1017825101 hasConcept C515207424 @default.
- W1017825101 hasConcept C55493867 @default.
- W1017825101 hasConcept C67705224 @default.
- W1017825101 hasConcept C71240020 @default.
- W1017825101 hasConcept C86803240 @default.
- W1017825101 hasConceptScore W1017825101C104317684 @default.
- W1017825101 hasConceptScore W1017825101C143065580 @default.
- W1017825101 hasConceptScore W1017825101C153911025 @default.
- W1017825101 hasConceptScore W1017825101C153957851 @default.
- W1017825101 hasConceptScore W1017825101C181199279 @default.
- W1017825101 hasConceptScore W1017825101C185592680 @default.
- W1017825101 hasConceptScore W1017825101C207583985 @default.
- W1017825101 hasConceptScore W1017825101C2776165026 @default.
- W1017825101 hasConceptScore W1017825101C2776568683 @default.
- W1017825101 hasConceptScore W1017825101C2777468819 @default.
- W1017825101 hasConceptScore W1017825101C2779315393 @default.
- W1017825101 hasConceptScore W1017825101C501734568 @default.
- W1017825101 hasConceptScore W1017825101C515207424 @default.
- W1017825101 hasConceptScore W1017825101C55493867 @default.
- W1017825101 hasConceptScore W1017825101C67705224 @default.
- W1017825101 hasConceptScore W1017825101C71240020 @default.
- W1017825101 hasConceptScore W1017825101C86803240 @default.
- W1017825101 hasFunder F4320332161 @default.
- W1017825101 hasIssue "S1" @default.
- W1017825101 hasLocation W10178251011 @default.
- W1017825101 hasOpenAccess W1017825101 @default.
- W1017825101 hasPrimaryLocation W10178251011 @default.
- W1017825101 hasRelatedWork W1575138297 @default.
- W1017825101 hasRelatedWork W1942554446 @default.
- W1017825101 hasRelatedWork W1978858109 @default.
- W1017825101 hasRelatedWork W1999543479 @default.
- W1017825101 hasRelatedWork W2072163663 @default.
- W1017825101 hasRelatedWork W2146780420 @default.
- W1017825101 hasRelatedWork W2410847849 @default.
- W1017825101 hasRelatedWork W2474878422 @default.
- W1017825101 hasRelatedWork W2529482336 @default.
- W1017825101 hasRelatedWork W40679281 @default.
- W1017825101 hasVolume "23" @default.
- W1017825101 isParatext "false" @default.
- W1017825101 isRetracted "false" @default.
- W1017825101 magId "1017825101" @default.
- W1017825101 workType "article" @default.