Cited by 456RNA and protein synthesis mechanismsRNA modifications and cancerGenetics and Neurodevelopmental Disorders

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Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration

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Ishimura, Ryuta, Nagy, Gabor, Dotu, Ivan, Zhou, Huihao, Yang, Xiang-Lei, Schimmel, Paul, Senju, Satoru, Nishimura, Yasuharu, Chuang, Jeffrey H., Ackerman, Susan L.·2014·Science

DOI 10.1126/science.1249749PMC PMC4281038

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Abstract

Problems making proteins kills nerve cells: Neurodegeneration is associated with a variety of different diseases, but its cellular roots are often obscure. Ishimura et al. find that mutant mice whose brain cells start to die rapidly soon after birth have lost the function of two vital cellular components (see the Perspective by Darnell). The first is a protein that releases stalled ribosomes stuck on messenger RNA (mRNA); the second is a transfer RNA (tRNA), which reads the code for arginine in the mRNA. This tRNA is expressed predominantly in the central nervous system. The lack of the tRNA leads to increased ribosomal stalling at arginine codons, which, when left uncorrected, blocks protein synthesis and proves fatal. Science , this issue p. 455 ; see also p. 378

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Authors: Ishimura, R., Nagy, G., Dotu, I., Zhou, H., Yang, X.-L., Schimmel, P., Senju, S., Nishimura, Y., Chuang, J. H., & Ackerman, S. L.
Affiliations: Howard Hughes Medical Institute (US)
The Jackson Laboratory for Genomic Medicine, 263 Farmington Avenue, Farmington, CT 06030, USA.
Scripps Research Institute (US)
Kumamoto University (JP)
The Jackson Laboratory for Genomic Medicine (US)
Corresponding author: Ishimura, Ryuta
Nagy, Gabor
Ackerman, Susan L.
ORCID: Zhou, Huihao
Yang, Xiang-Lei
Schimmel, Paul
Chuang, Jeffrey H.
Ackerman, Susan L.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2014-07-25
Volume: 345
Issue: 6195
Pages: 455-459
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1249749
PMC: PMC4281038
OpenAlex: W1983859619
Cited by: 455
References: 22
Citations by year: 2026: 29 · 2025: 34 · 2024: 41 · 2023: 47 · 2022: 33 · 2021: 40 · 2020: 44 · 2019: 51 · 2018: 42 · 2017: 30 · 2016: 30 · 2015: 24 · 2014: 9
FWCI: 12.72
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Science (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
Funders: National Science Foundation
Howard Hughes Medical Institute
Natural Environment Research Council
National Cancer Institute (#CA34196, P30CA034196)
National Institute of Neurological Disorders and Stroke (R01NS085092)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA and protein synthesis mechanisms
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA modifications and cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: ribosome stalling, tRNA mutations, pelota, ribosome recycling, neurodegeneration
MeSH terms: Animals, Cell Nucleus, Cerebellum, Endonucleases, Mice, Inbred BALB C, Mice, Inbred C57BL, Microfilament Proteins, Ribosomes, RNA, Transfer, Arg, Protein Biosynthesis, Point Mutation, Cell Cycle Proteins, GTP-Binding Proteins, Neurodegenerative Diseases, RNA Splice Sites, Mice

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Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration

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