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Decoding the impact of disease-causing mutations in an essential aminoacyl-tRNA synthetase

The Journal of biological chemistry, 2021-12, Vol.297 (6), p.101386-101386, Article 101386 [Peer Reviewed Journal]

2021 The Author ;Copyright © 2021 The Author. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2021 The Author 2021 ;ISSN: 0021-9258 ;EISSN: 1083-351X ;DOI: 10.1016/j.jbc.2021.101386 ;PMID: 34752820

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Title:
Decoding the impact of disease-causing mutations in an essential aminoacyl-tRNA synthetase
Author: Sissler, Marie
Subjects: Amino Acids ; Amino Acyl-tRNA Synthetases - genetics ; Amino Acyl-tRNA Synthetases - metabolism ; Aminoacyl-tRNA synthetase ; Biochemistry ; Biochemistry, Molecular Biology ; compound-heterozygous mutations ; Editors' Pick Highlight ; genetic disease ; Human health and pathology ; Humans ; integrated stress response ; Life Sciences ; multisynthetase complex ; Mutation ; Protein Biosynthesis ; RNA, Transfer - metabolism
Is Part Of: The Journal of biological chemistry, 2021-12, Vol.297 (6), p.101386-101386, Article 101386
Description: Aminoacyl-tRNA synthetases are housekeeping enzymes that catalyze the specific attachment of amino acids onto cognate tRNAs, providing building blocks for ribosomal protein synthesis. Owing to the absolutely essential nature of these enzymes, the possibility that mutations in their sequence could be the underlying cause of diseases had not been foreseen. However, we are learning of patients bearing familial mutations in aminoacyl-tRNA synthetases at an exponential rate. In a recent issue of JBC, Jin et al. analyzed the impact of two such mutations in the very special bifunctional human glutamyl-prolyl-tRNA synthetase and convincingly decode how these mutations elicit the integrated stress response.
Publisher: United States: Elsevier Inc
Language: English
Identifier: ISSN: 0021-9258
EISSN: 1083-351X
DOI: 10.1016/j.jbc.2021.101386
PMID: 34752820
Source: Hyper Article en Ligne (HAL) (Open Access)
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Decoding the impact of disease-causing mutations in an essential aminoacyl-tRNA synthetase

2021 The Author ;Copyright © 2021 The Author. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2021 The Author 2021 ;ISSN: 0021-9258 ;EISSN: 1083-351X ;DOI: 10.1016/j.jbc.2021.101386 ;PMID: 34752820

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