ArticleGenomics2008
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.
Article in Genomics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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
46 citing papers in PubMed, 188 citations in OpenAlex.
- Integrative Advances in Equine Genomics From Reference Assemblies to Evolutionary History and Key Traits.Evolutionary applications · 2026Review
- Methodologies to Identify Metabolic Pathway Differences Between Emaciated and Moderately Conditioned Horses: A Review of Multiple Gene Expression Techniques.Animals : an open access journal from MDPI · 2025Review
- Late Iron Age and Roman equine breeding north of the Alps: Genetic insights and cultural implications.iScience · 2025Article
- Characterisation of phenotypic patterns in equine exercise-associated myopathies.Equine veterinary journal · 2025Article
- Predicted genetic burden and frequency of phenotype-associated variants in the horse.Scientific reports · 2024Article
- Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.Equine veterinary journal · 2023Article
- Skeletal-Muscle-Specific Overexpression of Chrono Leads to Disruption of Glucose Metabolism and Exercise Capacity.Life (Basel, Switzerland) · 2022Article
- Prevalence of clinical signs and factors impacting expression of myosin heavy chain myopathy in Quarter Horse-related breeds with the MYH1Journal of veterinary internal medicine · 2022Article
- Quantifying the effect of Warmblood Fragile Foal Syndrome on foaling rates in the German riding horse population.PloS one · 2022Article
- Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis.Equine veterinary journal · 2021Article
- 251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.Neuromuscular disorders : NMD · 2021Article
- Comparison of gluteus medius muscle activity in Haflinger and Noriker horses with polysaccharide storage myopathy.Journal of animal physiology and animal nutrition · 2021Article
- Genetic Variation and the Distribution of Variant Types in the Horse.Frontiers in genetics · 2021Article
- Genomic Correlations Between the Gaits of Young Horses Measured by Accelerometry and Functional Longevity in Jumping Competition.Frontiers in genetics · 2021Article
- Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.The Journal of clinical endocrinology and metabolism · 2020Article
- Article
- Coding sequences of sarcoplasmic reticulum calcium ATPase regulatory peptides and expression of calcium regulatory genes in recurrent exertional rhabdomyolysis.Journal of veterinary internal medicine · 2019Article
- Conserving wildlife in a changing world: Understanding capture myopathy-a malignant outcome of stress during capture and translocation.Conservation physiology · 2019Review
- Neuromyotonia in a horse.Journal of veterinary internal medicine · 2019Article
- Myopathies Related to Glycogen Metabolism Disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Polysaccharide storage myopathy (PSSM) is a novel glycogenosis in horses characterized by abnormal glycogen accumulation in skeletal muscle and muscle damage with exertion. It is unlike glycogen storage diseases resulting from known defects in glycogenolysis, glycolysis, and glycogen synthesis that have been described in humans and domestic animals. A genome-wide association identified GYS1, encoding skeletal muscle glycogen synthase (GS), as a candidate gene for PSSM. DNA sequence analysis revealed a mutation resulting in an arginine-to-histidine substitution in a highly conserved region of GS. Functional analysis demonstrated an elevated GS activity in PSSM horses, and haplotype analysis and allele age estimation demonstrated that this mutation is identical by descent among horse breeds. This is the first report of a gain-of-function mutation in GYS1 resulting in a glycogenosis.
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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.