Evidence map›Paper›PMID 31082281›Full record

ReviewAnnual review of genomics and human genetics2019

tRNA Metabolism and Neurodevelopmental Disorders.

Ashleigh E Schaffer, Otis Pinkard, Jeffery M Coller

Abstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed, 1 pooled it
4.5field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

58 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Review
  5. Expandingthe Phenotypic Spectrum ofMolecular syndromology · 2026
    Article
  6. Article
  7. Article
  8. Epitranscriptomic alterations induced by environmental toxins: implications for RNA modifications and disease.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2025
    Review
  9. Emerging roles of transfer RNA fragments in the CNS.Brain : a journal of neurology · 2025
    Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. tRNA modification enzyme-dependent redox homeostasis regulates synapse formation and memory.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Review
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 1 institution in 1 country.

Ashleigh E SchafferDepartment of Genetics and Genome Sciences and Center for RNA Science and Therapeutics, Case Western Reserve University, Cleveland, Ohio 44106, USA; email: ashleigh.schaffer@case.edu.
Otis PinkardDepartment of Genetics and Genome Sciences and Center for RNA Science and Therapeutics, Case Western Reserve University, Cleveland, Ohio 44106, USA; email: ashleigh.schaffer@case.edu.
Jeffery M CollerDepartment of Genetics and Genome Sciences and Center for RNA Science and Therapeutics, Case Western Reserve University, Cleveland, Ohio 44106, USA; email: ashleigh.schaffer@case.edu.
Case Western Reserve University · US

Funding

MEDICAL SCIENTIST TRAINING PROGRAMT32GM007250 · NIGMS · CASE WESTERN RESERVE UNIVERSITY · PI HUANG, ALEX YEE-CHEN · 1985 to 2023
$33.4M
Understanding the interconnection between mRNA turnover and mRNA translationR01GM080465 · NIGMS · CASE WESTERN RESERVE UNIVERSITY · PI COLLER, JEFFERY · 2007 to 2016
$2.7M
Understanding the Interconnection Between mRNA turnover and mRNA TranslationR01GM125086 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI COLLER, JEFFERY · 2017 to 2020
$1.6M
Determining the influence of codon optimality on mRNA translation and decayR01GM118018 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI COLLER, JEFFERY · 2017 to 2020
$1.3M
Molecular Mechanisms of Intellectual DisabilityR00HD082337 · NICHD · CASE WESTERN RESERVE UNIVERSITY · PI SCHAFFER, ASHLEIGH E · 2017 to 2019
$662k
NICHD NIH HHS R00 HD082337NIGMS NIH HHS R01 GM080465NIGMS NIH HHS R01 GM118018NIGMS NIH HHS R01 GM125086NIGMS NIH HHS T32 GM007250
6 · The paper itself

Abstract

tRNAs are short noncoding RNAs required for protein translation. The human genome includes more than 600 putative tRNA genes, many of which are considered redundant. tRNA transcripts are subject to tightly controlled, multistep maturation processes that lead to the removal of flanking sequences and the addition of nontemplated nucleotides. Furthermore, tRNAs are highly structured and posttranscriptionally modified. Together, these unique features have impeded the adoption of modern genomics and transcriptomics technologies for tRNA studies. Nevertheless, it has become apparent from human neurogenetic research that many tRNA biogenesis proteins cause brain abnormalities and other neurological disorders when mutated. The cerebral cortex, cerebellum, and peripheral nervous system show defects, impairment, and degeneration upon tRNA misregulation, suggesting that they are particularly sensitive to changes in tRNA expression or function. An integrated approach to identify tRNA species and contextually characterize tRNA function will be imperative to drive future tool development and novel therapeutic design for tRNA-associated disorders.

Indexed as

MutationRNA Processing, Post-TranscriptionalHumansNeurodevelopmental DisordersProtein BiosynthesisRNA, TransferSequence Analysis, DNARNA, TransferneurodegenerationneurodevelopmentoligodendrocytesequencingtranslationtRNA

Identifiers

PMID31082281
PMCPMC6716996
OpenAlexW2945010710

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.