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  4. The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy
 
research article

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

Spaulding, E. L.
•
Hines, T. J.
•
Bais, P.
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September 3, 2021
Science

Dominant mutations in ubiquitously expressed transfer RNA (tRNA) synthetase genes cause axonal peripheral neuropathy, accounting for at least six forms of Charcot-Marie-Tooth (CMT) disease. Genetic evidence in mouse and Drosophila models suggests a gain-of-function mechanism. In this study, we used in vivo, cell type-specific transcriptional and translational profiling to show that mutant tRNA synthetases activate the integrated stress response (ISR) through the sensor kinase GCN2 (general control nonderepressible 2). The chronic activation of the ISR contributed to the pathophysiology, and genetic deletion or pharmacological inhibition of Gcn2 alleviated the peripheral neuropathy. The activation of GCN2 suggests that the aberrant activity of the mutant tRNA synthetases is still related to translation and that inhibiting GCN2 or the ISR may represent a therapeutic strategy in CMT.

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Type
research article
DOI
10.1126/science.abb3414
Web of Science ID

WOS:000692910300051

Author(s)
Spaulding, E. L.
•
Hines, T. J.
•
Bais, P.
•
Tadenev, A. L. D.
•
Schneider, R.
•
Jewett, D.
•
Pattavina, B.
•
Pratt, S. L.
•
Morelli, K. H.
•
Stum, M. G.
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Date Issued

2021-09-03

Publisher

American Association for the Advancement of Science

Published in
Science
Volume

373

Issue

6559

Start page

1156

End page

1161

Subjects

Multidisciplinary Sciences

•

Science & Technology - Other Topics

•

protein translation

•

identification

•

proteomes

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mutation

•

neurons

•

models

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
UPNAE  
Available on Infoscience
September 25, 2021
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/181764
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