ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2014
Repeat-associated non-AUG translation and its impact in neurodegenerative disease.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- PSP-Phenotype in SCA8: Case Report and Systemic Review.Cerebellum (London, England) · 2019Pooled it
- Exploring the versatility ofFly · 2025Review
- Non-coding repeat analyses in patients with Parkinson's disease.Frontiers in neurology · 2025Article
- Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.Nucleic acids research · 2024Article
- Native functions of short tandem repeats.eLife · 2023Article
- CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins.Nucleic acids research · 2022Article
- Proteinopathies associated to repeat expansion disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2022Review
- Translational control in aging and neurodegeneration.Wiley interdisciplinary reviews. RNA · 2021Review
- Modeling Neurodegenerative Disorders inInternational journal of molecular sciences · 2020Review
- New pathologic mechanisms in nucleotide repeat expansion disorders.Neurobiology of disease · 2019Review
- Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome.Heliyon · 2019Article
- Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.Acta neuropathologica communications · 2019Article
- Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
- Noncoding repeat expansions for ALS in Japan are associated with theNeurology. Genetics · 2018Article
- CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.Nature communications · 2018Article
- Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.Frontiers in genetics · 2018Review
- Deregulation of RNA Metabolism in Microsatellite Expansion Diseases.Advances in neurobiology · 2018Review
- Fragile X-Associated Neuropsychiatric Disorders (FXAND).Frontiers in psychiatry · 2018Review
- RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response.Nature communications · 2017Article
- Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions.Human genetics · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Nucleotide repeat expansions underlie numerous human neurological disorders. Repeats can trigger toxicity through multiple pathogenic mechanisms, including RNA gain-of-function, protein gain-of-function, and protein loss-of-function pathways. Traditionally, inference of the underlying pathogenic mechanism derives from the repeat location, with dominantly inherited repeats within transcribed noncoding sequences eliciting toxicity predominantly as RNA via sequestration of specific RNA binding proteins. However, recent findings question this assumption and suggest that repeats outside of annotated open reading frames may also trigger toxicity through a novel form of protein translational initiation known as repeat-associated non-AUG (RAN) translation. To date, RAN translation has been implicated in 4 nucleotide repeat expansion disorders: spinocerebellar ataxia type 8; myotonic dystrophy type 1 with CTG•CAG repeats; C9orf72 amyotrophic lateral sclerosis/frontotemporal dementia with GGGGCC•GGCCCC repeats; and fragile X-associated tremor/ataxia syndrome with CGG repeats. RAN translation contributes to hallmark pathological characteristics in these disorders by producing homopolymeric or dipeptide repeat proteins. Here, we review what is known about RAN translation, with an emphasis on how differences in both repeat sequence and context may confer different requirements for unconventional initiation. We then discuss how this new mechanism of translational initiation might function in normal physiology and lay out a roadmap for addressing the numerous questions that remain.
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What OpenQuestion holds
Registered trials
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.