ArticleMolecular therapy. Methods & clinical development2021
Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept.
Article in Molecular therapy. Methods & clinical development, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 18 citations in OpenAlex.
- Lysosomal Neuraminidase 1 (NEU1): Its Unique Molecular Characters and Therapeutic Approaches for Deficiencies.Advances in experimental medicine and biology · 2026Review
- Galactosialidosis: A Report of Three Cases Diagnosed With a Founder Genetic Mutation in the Bahraini Population.Cureus · 2025Article
- 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
- 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
- Structure of the immunoregulatory sialidase NEU1.Science advances · 2023Article
- Article
- Reversal of neuroinflammation in novel GS model mice by single i.c.v. administration of CHO-derived rhCTSA precursor protein.Molecular therapy. Methods & clinical development · 2022Article
- Inflammatory arthritis complicating galactosialidosis: a case report.BMC rheumatology · 2021Article
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Authors and funding
15 authors at 2 institutions in 1 country.
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Abstract
Galactosialidosis is a rare lysosomal storage disease caused by a congenital defect of protective protein/cathepsin A (PPCA) and secondary deficiency of neuraminidase-1 and β-galactosidase. PPCA is a lysosomal serine carboxypeptidase that functions as a chaperone for neuraminidase-1 and β-galactosidase within a lysosomal multi-protein complex. Combined deficiency of the three enzymes leads to accumulation of sialylated glycoproteins and oligosaccharides in tissues and body fluids and manifests in a systemic disease pathology with severity mostly correlating with the type of mutation(s) and age of onset of the symptoms. Here, we describe a proof-of-concept, preclinical study toward the development of enzyme replacement therapy for galactosialidosis, using a recombinant human PPCA. We show that the recombinant enzyme, taken up by patient-derived fibroblasts, restored cathepsin A, neuraminidase-1, and β-galactosidase activities. Long-term, bi-weekly injection of the recombinant enzyme in a cohort of mice with null mutation at the
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