Evidence map›Paper›PMID 24852074›Full record

ReviewCurrent opinion in genetics & development2014

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.

John Douglas Cleary, Laura P W Ranum

Open access · greenAbstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
77citing papers in PubMed, 1 pooled it
8.8field-weighted citation impact, top 1% 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

77 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.

  1. Mammalian Polycistronic mRNAs and Disease.Trends in genetics : TIG · 2017
    Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Modeling Myotonic Dystrophy Type 2 UsingInternational journal of molecular sciences · 2023
    Review
  13. G-Quadruplexes in Repeat Expansion Disorders.International journal of molecular sciences · 2023
    Review
  14. Article
  15. Identification ofProceedings of the National Academy of Sciences of the United States of America · 2022
    Article
  16. Review
  17. Article
  18. Article
  19. Review
  20. NovelFrontiers in aging neuroscience · 2021
    Article

17 more citing papers are in PubMed but not listed here.

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

2 authors at 1 institution in 1 country.

John Douglas ClearyCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL, USA; Genetics Institute, College of Medicine, University of Florida, Gainesville, FL, USA.
Laura P W RanumCenter for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Department of Molecular Genetics & Microbiology, College of Medicine, University of Florida, Gainesville, FL, USA; Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, USA; Genetics Institute, College of Medicine, University of Florida, Gainesville, FL, USA. Electronic address: ranum@ufl.edu.
University of Florida · US

Funding

Temporal/spatial RNA Expression Effects in DM1 and DM2P01NS058901 · NINDS · UNIVERSITY OF MINNESOTA · PI RANUM, LAURA P.W · 2008 to 2017
$12.3M
MOLECULAR GENETIC CHARACTERIZATION OF SCA8R01NS040389 · NINDS · UNIVERSITY OF MINNESOTA TWIN CITIES · PI RANUM, LAURA P.W · 2000 to 2010
$3.8M
NINDS NIH HHS P01 NS058901NINDS NIH HHS P01NS058901NINDS NIH HHS R01 NS040389
6 · The paper itself

Abstract

Microsatellite-expansion diseases are a class of neurological and neuromuscular disorders caused by the expansion of short stretches of repetitive DNA (e.g. GGGGCC, CAG, CTG …) within the human genome. Since their discovery 20 years ago, research into how microsatellites expansions cause disease has been examined using the model that these genes are expressed in one direction and that expansion mutations only encode proteins when located in an ATG-initiated open reading frame. The fact that these mutations are often bidirectionally transcribed combined with the recent discovery of repeat associated non-ATG (RAN) translation provides new perspectives on how these expansion mutations are expressed and impact disease. Two expansion transcripts and a set of unexpected RAN proteins must now be considered for both coding and 'non-coding' expansion disorders. RAN proteins have been reported in a growing number of diseases, including spinocerebellar ataxia type 8 (SCA8), myotonic dystrophy type 1 (DM1), Fragile-X tremor ataxia syndrome (FXTAS), and C9ORF72 amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD).

Indexed as

MutationProtein BiosynthesisBase SequenceCodon, InitiatorDNA Repeat ExpansionHumansModels, GeneticMutant ProteinsMyotonic DystrophySpinocerebellar DegenerationsCodon, InitiatorMutant Proteins

Identifiers

PMID24852074
PMCPMC4237677
OpenAlexW1999578663

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.