ArticleThe American journal of pathology2005
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
Article in The American journal of pathology, 2005. 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, 41 citations in OpenAlex.
- Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Article
- Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?JIMD reports · 2021Article
- Morquio-B disease: Clinical and genetic characteristics of a distinctJIMD reports · 2020Article
- Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing.Case reports in genetics · 2018Article
- The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.Metabolic brain disease · 2017Article
- Bone mineral density in mucopolysaccharidosis IVB.Molecular genetics and metabolism reports · 2016Article
- β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.JIMD reports · 2013Article
- Where catabolism meets signalling: neuraminidase 1 as a modulator of cell receptors.Glycoconjugate journal · 2011Review
- GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.Biochimica et biophysica acta · 2011Article
- Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.Journal of biomedical science · 2010Article
- Neuraminidase-1 is required for the normal assembly of elastic fibers.American journal of physiology. Lung cellular and molecular physiology · 2008Article
- Integration of active human beta-galactosidase gene (100 kb) into genome using HSV/AAV amplicon vector.Gene therapy · 2007Article
- Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis.Journal of cellular and molecular medicineArticle
- Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.Biochimica et biophysica actaArticle
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
G(M1)-gangliosidosis is a lysosomal storage disorder caused by acid beta-galactosidase deficiency. Aside from the lysosomal beta-galactosidase enzyme, the beta-galactosidase gene also encodes the elastin-binding protein (EBP), deficiency in which impairs elastogenesis. Using expression studies and Western blots of COS-1 cells, we identified and characterized four new and two known beta-galactosidase gene mutations detected in G(M1)-gangliosidosis patients with infantile, juvenile, or adult forms of disease. We then focused on impaired elastogenesis detected in fibroblasts from patients with infantile and juvenile disease. The juvenile patient showed connective-tissue abnormalities, unusual urinary keratan sulfate excretion, and an EBP reduction, despite mutations affecting only beta-galactosidase. Because galactosugar-bearing moieties may alter EBP function and impair elastogenesis, we assessed infantile and juvenile patients for the source of altered elastogenesis. We confirmed that the infantile patient's impaired elastogenesis arose from a primary EBP defect, according to molecular analysis. We examined the juvenile's fibroblasts by immunohistochemistry, addition of keratanase, soluble/insoluble elastin assay, and radiolabeling of tropoelastin. These experiments revealed that the juvenile's impaired elastogenesis likely arose from secondary EBP deficiency caused by keratan sulfate accumulation. Thus, impaired elastogenesis in G(M1)-gangliosidosis can arise from primary or secondary EBP defects in fibroblasts from infantile and juvenile patients, respectively.
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