ArticleJournal of clinical medicine2020
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
Article in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.Epilepsia open · 2026Review
- Type I Sialidosis in a Chinese family: a case report and literature review.Acta epileptologica · 2025Article
- Neuraminidase-1 (NEU1): Biological Roles and Therapeutic Relevance in Human Disease.Current issues in molecular biology · 2024Review
- AAV-mediated gene therapy for sialidosis.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Gene therapy corrects the neurological deficits of mice with sialidosis.Gene therapy · 2024Article
- Sialidosis type 1 without cherry-red spots: a case report and literature review.BMJ neurology open · 2024Article
- Structure of the immunoregulatory sialidase NEU1.Science advances · 2023Article
- Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.Biomedicines · 2022Article
- Hematopoietic cell transplantation for sialidosis type I.Molecular genetics and metabolism reports · 2022Article
- NEU1-A Unique Therapeutic Target for Alzheimer's Disease.Frontiers in pharmacology · 2022Review
- A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.The British journal of ophthalmology · 2021Article
- Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept.Molecular therapy. Methods & clinical development · 2021Article
- Sialylation of host proteins as targetable risk factor for COVID-19 susceptibility and spreading: A hypothesis.FASEB bioAdvances · 2021Article
- Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.Brain sciences · 2020Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
Congenital deficiency of the lysosomal sialidase neuraminidase 1 (NEU1) causes the lysosomal storage disease, sialidosis, characterized by impaired processing/degradation of sialo-glycoproteins and sialo-oligosaccharides, and accumulation of sialylated metabolites in tissues and body fluids. Sialidosis is considered an ultra-rare clinical condition and falls into the category of the so-called orphan diseases, for which no therapy is currently available. In this study we aimed to identify potential therapeutic modalities, targeting primarily patients affected by type I sialidosis, the attenuated form of the disease. We tested the beneficial effects of a recombinant protective protein/cathepsin A (PPCA), the natural chaperone of NEU1, as well as pharmacological and dietary compounds on the residual activity of mutant NEU1 in a cohort of patients' primary fibroblasts. We observed a small, but consistent increase in NEU1 activity, following administration of all therapeutic agents in most of the fibroblasts tested. Interestingly, dietary supplementation of betaine, a natural amino acid derivative, in mouse models with residual NEU1 activity mimicking type I sialidosis, increased the levels of mutant NEU1 and resolved the oligosacchariduria. Overall these findings suggest that carefully balanced, unconventional dietary compounds in combination with conventional therapeutic approaches may prove to be beneficial for the treatment of sialidosis type I.
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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.