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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Nature
Article . 2006 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
Nature
Article . 2006
versions View all 2 versions

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

Authors: Lee, J W; Beebe, K; Nangle, L A; Jang, J; Longo, Guess C; Cook, S A; Davisson, M T; +3 Authors

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

Abstract

Misfolded proteins are associated with several pathological conditions including neurodegeneration. Although some of these abnormally folded proteins result from mutations in genes encoding disease-associated proteins (for example, repeat-expansion diseases), more general mechanisms that lead to misfolded proteins in neurons remain largely unknown. Here we demonstrate that low levels of mischarged transfer RNAs (tRNAs) can lead to an intracellular accumulation of misfolded proteins in neurons. These accumulations are accompanied by upregulation of cytoplasmic protein chaperones and by induction of the unfolded protein response. We report that the mouse sticky mutation, which causes cerebellar Purkinje cell loss and ataxia, is a missense mutation in the editing domain of the alanyl-tRNA synthetase gene that compromises the proofreading activity of this enzyme during aminoacylation of tRNAs. These findings demonstrate that disruption of translational fidelity in terminally differentiated neurons leads to the accumulation of misfolded proteins and cell death, and provide a novel mechanism underlying neurodegeneration.

Related Organizations
Keywords

Models, Molecular, 570, Protein Folding, Molecular Sequence Data, Neurodegenerative-Diseases, 610, RNA, Transfer, Ala, Alanine-tRNA-Ligase, Protein-Structure-Tertiary, Escherichia-coli, Catalysis, Mice, Purkinje Cells, Purkinje-Cells, Serine, Escherichia coli, Animals, Humans, Mice-Mutant-Strains, Molecular-Sequence-Data, Alanine, Mice-Inbred-C57BL, Alanine-tRNA Ligase, Protein-Folding, Acetylation, Neurodegenerative Diseases, Fibroblasts, Mice, Mutant Strains, Protein Structure, Tertiary, Mice, Inbred C57BL, RNA-Transfer-Ala, Phenotype, Models-Molecular, Mutation

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    citations
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    539
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Top 1%
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Top 1%
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Top 1%
Powered by OpenAIRE graph
citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
539
Top 1%
Top 1%
Top 1%