FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2719204683> ?p ?o ?g. }

• W2719204683 endingPage "3631" @default.
• W2719204683 startingPage "3619" @default.
• W2719204683 abstract "Histidyl-tRNA synthetase (HARS) is a highly conserved translation factor that plays an essential role in protein synthesis. HARS has been implicated in the human syndromes Charcot-Marie-Tooth (CMT) Type 2W and Type IIIB Usher (USH3B). The USH3B mutation, which encodes a Y454S substitution in HARS, is inherited in an autosomal recessive fashion and associated with childhood deafness, blindness, and episodic hallucinations during acute illness. The biochemical basis of the pathophysiologies linked to USH3B is currently unknown. Here, we present a detailed functional comparison of wild-type (WT) and Y454S HARS enzymes. Kinetic parameters for enzymes and canonical substrates were determined using both steady state and rapid kinetics. Enzyme stability was examined using differential scanning fluorimetry. Finally, enzyme functionality in a primary cell culture was assessed. Our results demonstrate that the Y454S substitution leaves HARS amino acid activation, aminoacylation, and tRNAHis binding functions largely intact compared with those of WT HARS, and the mutant enzyme dimerizes like the wild type does. Interestingly, during our investigation, it was revealed that the kinetics of amino acid activation differs from that of the previously characterized bacterial HisRS. Despite the similar kinetics, differential scanning fluorimetry revealed that Y454S is less thermally stable than WT HARS, and cells from Y454S patients grown at elevated temperatures demonstrate diminished levels of protein synthesis compared to those of WT cells. The thermal sensitivity associated with the Y454S mutation represents a biochemical basis for understanding USH3B." @default.
• W2719204683 created "2017-06-30" @default.
• W2719204683 creator A5005732350 @default.
• W2719204683 creator A5030150493 @default.
• W2719204683 creator A5033892718 @default.
• W2719204683 creator A5049727260 @default.
• W2719204683 creator A5054673621 @default.
• W2719204683 creator A5061367519 @default.
• W2719204683 creator A5062490746 @default.
• W2719204683 creator A5076009379 @default.
• W2719204683 creator A5087991462 @default.
• W2719204683 date "2017-07-07" @default.
• W2719204683 modified "2023-10-16" @default.
• W2719204683 title "The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity" @default.
• W2719204683 cites W1547516694 @default.
• W2719204683 cites W1944305179 @default.
• W2719204683 cites W1967569449 @default.
• W2719204683 cites W1975940326 @default.
• W2719204683 cites W1983207179 @default.
• W2719204683 cites W1984854823 @default.
• W2719204683 cites W1986735811 @default.
• W2719204683 cites W1987711585 @default.
• W2719204683 cites W1990257248 @default.
• W2719204683 cites W1993560994 @default.
• W2719204683 cites W1995775084 @default.
• W2719204683 cites W1996571604 @default.
• W2719204683 cites W2000106654 @default.
• W2719204683 cites W2004009723 @default.
• W2719204683 cites W2004958626 @default.
• W2719204683 cites W2006873318 @default.
• W2719204683 cites W2014863886 @default.
• W2719204683 cites W2020192951 @default.
• W2719204683 cites W2020256380 @default.
• W2719204683 cites W2033495952 @default.
• W2719204683 cites W2049756814 @default.
• W2719204683 cites W2054143361 @default.
• W2719204683 cites W2062445521 @default.
• W2719204683 cites W2062517369 @default.
• W2719204683 cites W2069332305 @default.
• W2719204683 cites W2079226610 @default.
• W2719204683 cites W2081987796 @default.
• W2719204683 cites W2082906241 @default.
• W2719204683 cites W2085272777 @default.
• W2719204683 cites W2086995578 @default.
• W2719204683 cites W2090301388 @default.
• W2719204683 cites W2090404901 @default.
• W2719204683 cites W2092118306 @default.
• W2719204683 cites W2098106514 @default.
• W2719204683 cites W2098440430 @default.
• W2719204683 cites W2108093337 @default.
• W2719204683 cites W2110274263 @default.
• W2719204683 cites W2110815253 @default.
• W2719204683 cites W2115420420 @default.
• W2719204683 cites W2116275849 @default.
• W2719204683 cites W2120014697 @default.
• W2719204683 cites W2128834219 @default.
• W2719204683 cites W2144375152 @default.
• W2719204683 cites W2158265014 @default.
• W2719204683 cites W2159804371 @default.
• W2719204683 cites W2161697941 @default.
• W2719204683 cites W2166437336 @default.
• W2719204683 cites W2171863913 @default.
• W2719204683 cites W2172195205 @default.
• W2719204683 cites W2182838444 @default.
• W2719204683 cites W2235140785 @default.
• W2719204683 cites W2257963086 @default.
• W2719204683 cites W2474679419 @default.
• W2719204683 cites W2540648321 @default.
• W2719204683 cites W66180445 @default.
• W2719204683 doi "https://doi.org/10.1021/acs.biochem.7b00114" @default.
• W2719204683 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28632987" @default.
• W2719204683 hasPublicationYear "2017" @default.
• W2719204683 type Work @default.
• W2719204683 sameAs 2719204683 @default.
• W2719204683 citedByCount "18" @default.
• W2719204683 countsByYear W27192046832017 @default.
• W2719204683 countsByYear W27192046832018 @default.
• W2719204683 countsByYear W27192046832019 @default.
• W2719204683 countsByYear W27192046832020 @default.
• W2719204683 countsByYear W27192046832021 @default.
• W2719204683 countsByYear W27192046832022 @default.
• W2719204683 countsByYear W27192046832023 @default.
• W2719204683 crossrefType "journal-article" @default.
• W2719204683 hasAuthorship W2719204683A5005732350 @default.
• W2719204683 hasAuthorship W2719204683A5030150493 @default.
• W2719204683 hasAuthorship W2719204683A5033892718 @default.
• W2719204683 hasAuthorship W2719204683A5049727260 @default.
• W2719204683 hasAuthorship W2719204683A5054673621 @default.
• W2719204683 hasAuthorship W2719204683A5061367519 @default.
• W2719204683 hasAuthorship W2719204683A5062490746 @default.
• W2719204683 hasAuthorship W2719204683A5076009379 @default.
• W2719204683 hasAuthorship W2719204683A5087991462 @default.
• W2719204683 hasBestOaLocation W27192046832 @default.
• W2719204683 hasConcept C104317684 @default.
• W2719204683 hasConcept C143065580 @default.
• W2719204683 hasConcept C181199279 @default.
• W2719204683 hasConcept C185592680 @default.
• W2719204683 hasConcept C207583985 @default.

• next