ArticleNeuromuscular disorders : NMD2015
Autophagic vacuolar pathology in desminopathies.
Article in Neuromuscular disorders : NMD, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Enhanced glucose uptake in cardiac and skeletal muscles in Danon disease results from the impaired chaperone-mediated autophagy.Cell & bioscience · 2026Article
- Impaired Autophagic Flux in Skeletal Muscle of Plectin-Related Epidermolysis Bullosa Simplex With Muscular Dystrophy.Journal of cachexia, sarcopenia and muscle · 2025Article
- Expanding the spectrum of HSPB8-related myopathy: a novel mutation causing atypical pediatric-onset axial and limb-girdle involvement with autophagy abnormalities and molecular dynamics studies.Journal of human genetics · 2025Article
- A novel variant in VMA21 causing adult-onset phenotype of X-linked myopathy with excessive autophagy with cardiac involvement in a Chinese patient.Journal of neuromuscular diseases · 2025Article
- Differential diagnosis of vacuolar myopathies in the NGS era.Brain pathology (Zurich, Switzerland) · 2020Article
- Sequestosome-1 (p62) expression reveals chaperone-assisted selective autophagy in immune-mediated necrotizing myopathies.Brain pathology (Zurich, Switzerland) · 2020Article
- Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.Chinese medical journal · 2019Article
- Molecular insights into cardiomyopathies associated with desmin (DES) mutations.Biophysical reviews · 2018Review
- Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.HeartRhythm case reports · 2018Article
- Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.Annals of neurology · 2017Article
- "Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders.Journal of neuromuscular diseases · 2016Review
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Authors and funding
8 authors at 4 institutions in 1 country.
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Abstract
Autophagic vacuolar myopathies are an emerging group of muscle diseases with common pathologic features. These include autophagic vacuoles containing both lysosomal and autophagosomal proteins sometimes lined with sarcolemmal proteins such as dystrophin. These features have been most clearly described in patients with Danon's disease due to LAMP2 deficiency and X-linked myopathy with excessive autophagy (XMEA) due to mutations in VMA21. Disruptions of these proteins lead to lysosomal dysfunction and subsequent autophagic vacuolar pathology. We performed whole exome sequencing on two families with autosomal dominantly inherited myopathies with autophagic vacuolar pathology and surprisingly identified a p.R454W tail domain mutation and a novel p.S6W head domain mutation in desmin, DES. In addition, re-evaluation of muscle tissue from another family with a novel p.I402N missense DES mutation also identified autophagic vacuoles. We suggest that autophagic vacuoles may be an underappreciated pathology present in desminopathy patient muscle. Moreover, autophagic vacuolar pathology can be due to genetic etiologies unrelated to primary defects in the lysosomes or autophagic machinery. Specifically, cytoskeletal derangement and the accumulation of aggregated proteins such as desmin may activate the autophagic system leading to the pathologic features of an autophagic vacuolar myopathy.
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