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C50T, Arg-UCU-4-1, neurodegenaration

tRNA variant C50T
Gene Arg-UCU-4-1
Disease neurodegenaration
Description Impaired translation by low levels of mature tRNA caused by poor 5’ tRNA processing by RnaseP
tRNAs tdbR00000760
Publications
  • Structural basis for impaired 5' processing of a mutant tRNA associated with defects in neuronal homeostasis.
    Lien B Lai, Stella M Lai, Eric S Szymanski, Mridu Kapur, Edric K Choi, Hashim M Al-Hashimi, Susan L Ackerman, Venkat Gopalan
    Proceedings of the National Academy of Sciences of the United States of America
    volume: 119 issue: 10 date: March 8, 2022 epub: March 1, 2022 PUBMED ID: 35238631 DOI: e2119529119