ReviewFrontiers in aging neuroscience2014
Oculopharyngeal muscular dystrophy as a paradigm for muscle aging.
Review in Frontiers in aging neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 34 citations in OpenAlex.
- Oculopharyngeal Muscular Dystrophy: From Molecular Pathogenesis to Gene Therapy.Molecular neurobiology · 2026Review
- What is known about muscle weakness, balance impairments and indoor mobility limitations in oculopharyngeal muscular dystrophy? A scoping review.Journal of neuromuscular diseases · 2026Article
- The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.Orphanet journal of rare diseases · 2026Article
- Article
- Different outcomes of endurance and resistance exercise in skeletal muscles of Oculopharyngeal muscular dystrophy.Journal of cachexia, sarcopenia and muscle · 2024Article
- 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
- Frontalis Suspension in Muscular Dystrophy: 16-years Follow-up.Plastic and reconstructive surgery. Global open · 2022Article
- Cellular hnRNPAB binding to viral nucleoprotein inhibits flu virus replication by blocking nuclear export of viral mRNA.iScience · 2021Article
- RNA-Binding Proteins in the Post-transcriptional Control of Skeletal Muscle Development, Regeneration and Disease.Frontiers in cell and developmental biology · 2021Review
- Cytoskeletal disorganization underlies PABPN1-mediated myogenic disability.Scientific reports · 2020Article
- Mouse models for muscular dystrophies: an overview.Disease models & mechanisms · 2020Review
- Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD).Journal of cachexia, sarcopenia and muscle · 2019Article
- Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools.European journal of human genetics : EJHG · 2019Article
- Post-transcriptional regulation of gene expression and human disease.Current opinion in cell biology · 2018Review
- An alanine expanded PABPN1 causes increased utilization of intronic polyadenylation sites.NPJ aging and mechanisms of disease · 2017Article
- "Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders.Journal of neuromuscular diseases · 2016Review
- PABPN1-Dependent mRNA Processing Induces Muscle Wasting.PLoS genetics · 2016Article
- Patterns of Age-Associated Degeneration Differ in Shoulder Muscles.Frontiers in aging neuroscience · 2015Article
- Editorial: Pathophysiological Mechanisms of Sarcopenia in Aging and in Muscular Dystrophy: A Translational Approach.Frontiers in aging neuroscience · 2015Article
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Symptoms in late-onset neuromuscular disorders initiate only from midlife onward and progress with age. These disorders are primarily determined by identified hereditable mutations, but their late-onset symptom manifestation is not fully understood. Here, we review recent research developments on the late-onset autosomal dominant oculopharyngeal muscular dystrophy (OPMD). OPMD is caused by an expansion mutation in the gene encoding for poly-adenylate RNA binding protein1 (PABPN1). The molecular pathogenesis for the disease is still poorly understood. Despite a ubiquitous expression of PABPN1, symptoms in OPMD are limited to skeletal muscles. We discuss recent studies showing that PABPN1 levels in skeletal muscles are lower compared with other tissues, and specifically in skeletal muscles, PABPN1 expression declines from midlife onward. In OPMD, aggregation of expanded PABPN1 causes an additional decline in the level of the functional protein, which is associated with severe muscle weakness in OPMD. Reduced PABNPN1 expression in muscle cell culture causes myogenic defects, suggesting that PABPN1 loss-of-function causes muscle weakness in OPMD and in the elderly. Molecular signatures of OPMD muscles are similar to those of normal muscle aging, although expression trends progress faster in OPMD. We discuss a working hypothesis that aging-associated factors trigger late-onset symptoms in OPMD, and contribute to accelerated muscle weakness in OPMD. We focus on the pharyngeal and eyelid muscles, which are often affected in OPMD patients. We suggest that muscle weakness in OPMD is a paradigm for muscle aging.
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.