ArticleBiochimica et biophysica acta
Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.
Article in Biochimica et biophysica acta. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Mammalian Neuraminidases in Immune-Mediated Diseases: Mucins and Beyond.Frontiers in immunology · 2022Pooled it
- O-GlcNAcylation as a Metabolic Integrator in Cardiovascular Physiology and Disease.International journal of molecular sciences · 2026Review
- Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.Advances in experimental medicine and biology · 2026Review
- AAV-mediated gene therapy for sialidosis.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders.iScience · 2024Article
- Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.Glycoconjugate journal · 2023Review
- Sialidase Inhibitors with Different Mechanisms.Journal of medicinal chemistry · 2022Review
- Haploinsufficiency of the lysosomal sialidase NEU1 results in a model of pleomorphic rhabdomyosarcoma in mice.Communications biology · 2022Article
- Biomarkers in Primary Focal Segmental Glomerulosclerosis in Optimal Diagnostic-Therapeutic Strategy.Journal of clinical medicine · 2022Review
- Defect in cytosolic Neu2 sialidase abrogates lipid metabolism and impairs muscle function in vivo.Scientific reports · 2022Article
- Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?Acta neuropathologica communications · 2021Article
- Modeling Sialidosis with Neural Precursor Cells Derived from Patient-Derived Induced Pluripotent Stem Cells.International journal of molecular sciences · 2021Article
- Sialylation of host proteins as targetable risk factor for COVID-19 susceptibility and spreading: A hypothesis.FASEB bioAdvances · 2021Article
- Analysis of Generalized Fibrosis in Mouse Tissue Sections with Masson's Trichrome Staining.Bio-protocol · 2020Article
- Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.Science advances · 2019Article
- Lysosomal storage diseases.Nature reviews. Disease primers · 2018Review
- Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles.Journal of neuromuscular diseases · 2016Review
- Cancer cachexia causes skeletal muscle damage via transient receptor potential vanilloid 2-independent mechanisms, unlike muscular dystrophy.Journal of cachexia, sarcopenia and muscle · 2016Article
- Regulated lysosomal exocytosis mediates cancer progression.Science advances · 2015Article
- Neuraminidase-1 mediates skeletal muscle regeneration.Biochimica et biophysica acta · 2015Article
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
Neuraminidase 1 (NEU1) regulates the catabolism of sialoglycoconjugates in lysosomes. Congenital NEU1 deficiency in children is the basis of sialidosis, a severe neurosomatic disorder in which patients experience a broad spectrum of clinical manifestations varying in the age of onset and severity. Osteoskeletal deformities and muscle hypotonia have been described in patients with sialidosis. Here we present the first comprehensive analysis of the skeletal muscle pathology associated with loss of Neu1 function in mice. In this animal model, skeletal muscles showed an expansion of the epimysial and perimysial spaces, associated with proliferation of fibroblast-like cells and abnormal deposition of collagens. Muscle fibers located adjacent to the expanded connective tissue underwent extensive invagination of their sarcolemma, which resulted in the infiltration of the fibers by fibroblast-like cells and extracellular matrix, and in their progressive cytosolic fragmentation. Both the expanded connective tissue and the juxtaposed infiltrated muscle fibers were strongly positive for lysosomal markers and displayed increased proteolytic activity of lysosomal cathepsins and metalloproteinases. These combined features could lead to abnormal remodeling of the extracellular matrix that could be responsible for sarcolemmal invagination and progressive muscle fiber degeneration, ultimately resulting in an overt atrophic phenotype. This unique pattern of muscle damage, which has never been described in any myopathy, might explain the neuromuscular manifestations reported in patients with the type II severe form of sialidosis. More broadly, these findings point to a potential role of NEU1 in cell proliferation and extracellular matrix remodeling.
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