Datasets

Title	Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration
Organism
Number of Samples	8
Release Date	2014/03/24 00:00
Sequencing Types
Protocol Details

Title
Authors	Ishimura R,Nagy G,Dotu I,Zhou H,Yang XL,Schimmel P,Senju S,Nishimura Y,Chuang JH,Ackerman SL
Journal	Science (New York, N.Y.)
Publication Date	2014 Jul 25
Abstract	In higher eukaryotes, transfer RNAs (tRNAs) with the same anticodon are encoded by multiple nuclear genes, and little is known about how mutations in these genes affect translation and cellular homeostasis. Similarly, the surveillance systems that respond to such defects in higher eukaryotes are not clear. Here, we discover that loss of GTPBP2, a novel binding partner of the ribosome recycling protein Pelota, in mice with a mutation in a tRNA gene that is specifically expressed in the central nervous system causes ribosome stalling and widespread neurodegeneration. Our results not only define GTPBP2 as a ribosome rescue factor but also unmask the disease potential of mutations in nuclear-encoded tRNA genes. Copyright © 2014, American Association for the Advancement of Science.
PMC	PMC4281038
PMID	25061210
DOI

Ishimura et al. 2014 (PRJNA242520)