ReviewCurrent neurology and neuroscience reports2009
Oculopharyngeal muscular dystrophy: a polyalanine myopathy.
Review in Current neurology and neuroscience reports, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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.
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
31 citing papers in PubMed, 73 citations in OpenAlex.
- Isolated dysphagia masking myasthenia gravis diagnosis.Arquivos de neuro-psiquiatria · 2026Article
- Article
- Article
- Challenges and Considerations of Preclinical Development for iPSC-Based Myogenic Cell Therapy.Cells · 2024Review
- Alternative Polyadenylation Utilization Results in Ribosome Assembly and mRNA Translation Deficiencies in a Model for Muscle Aging.The journals of gerontology. Series A, Biological sciences and medical sciences · 2022Article
- Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.PLoS genetics · 2022Article
- A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation.BMC neurology · 2021Article
- Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy.International journal of molecular sciences · 2020Article
- Mouse models for muscular dystrophies: an overview.Disease models & mechanisms · 2020Review
- Advances in imaging of brain abnormalities in neuromuscular disease.Therapeutic advances in neurological disorders · 2019Review
- Post-transcriptional regulation of gene expression and human disease.Current opinion in cell biology · 2018Review
- Oropharyngeal dysphagia profiles in individuals with oculopharyngeal muscular dystrophy.Neurogastroenterology and motility · 2018Article
- Article
- PABPN1-Dependent mRNA Processing Induces Muscle Wasting.PLoS genetics · 2016Article
- Automated design of hammerhead ribozymes and validation by targeting the PABPN1 gene transcript.Nucleic acids research · 2016Article
- Regulated Intron Retention and Nuclear Pre-mRNA Decay Contribute to PABPN1 Autoregulation.Molecular and cellular biology · 2015Article
- Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.Neuromolecular medicine · 2014Article
- The polyadenylation code: a unified model for the regulation of mRNA alternative polyadenylation.Journal of Zhejiang University. Science. B · 2014Review
- Cellular maintenance of nuclear protein homeostasis.Cellular and molecular life sciences : CMLS · 2014Review
- RNA-binding protein misregulation in microsatellite expansion disorders.Advances in experimental medicine and biology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It has been 10 years since the identification of the first PABPN1 gene (GCN)(n)/polyalanine mutations responsible for oculopharyngeal muscular dystrophy (OPMD). These mutations have been found in most cases of OPMD diagnosed in more than 35 countries. Sequence analyses have shown that such mutations have occurred numerous times in human history. Although PABPN1 was found early on to be a component of the classic filamentous intranuclear inclusions (INIs), mRNA and other proteins also have been found to coaggregate in the INIs. It is still unclear if the INIs play a pathologic or a protective role. The generation of numerous cell and animal models of OPMD has led to greater insight into its complex molecular pathophysiology and identified the first candidate therapeutic molecules. This paper reviews basic and clinical research on OPMD, with special emphasis on recent developments in the understanding of its pathophysiology.
Indexed as
Identifiers
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.