ArticleJournal of inherited metabolic disease2005
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).
Article in Journal of inherited metabolic disease, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 51 citations in OpenAlex.
- Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.European journal of pediatrics · 2019Trial
- A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.Iranian journal of pathology · 2026Article
- Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.Diseases (Basel, Switzerland) · 2025Article
- Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.Molecular biology reports · 2025Article
- Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.Diagnostics (Basel, Switzerland) · 2025Article
- Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.Molecular biology reports · 2025Article
- Mutations in Glycosyltransferases and Glycosidases: Implications for Associated Diseases.Biomolecules · 2024Article
- Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB.Scientific reports · 2023Article
- Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing.Journal of pediatric genetics · 2021Article
- Temporospatial Development of Neuropathologic Findings in a Canine Model of Mucopolysaccharidosis IIIB.Veterinary pathology · 2021Article
- Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).Orphanet journal of rare diseases · 2019Article
- A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis.Iranian journal of child neurology · 2019Article
- Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.Korean journal of pediatrics · 2016Article
- Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.Journal of inherited metabolic disease · 2016Article
- Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.Brain : a journal of neurology · 2015Article
- Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease.Journal of inherited metabolic disease · 2014Article
- Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).Journal of inherited metabolic disease · 2014Article
- Natural history of Sanfilippo syndrome in Spain.Orphanet journal of rare diseases · 2013Article
- A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.PloS one · 2013Article
- Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.Journal of inherited metabolic disease · 2010Article
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
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Abstract
Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by the deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). NAGLU is involved in the degradation of the glycosaminoglycan (GAG) heparan sulphate, and a deficiency results in the accumulation of partially degraded GAGs inside lysosomes. Early clinical symptoms include hyperactivity, aggressiveness and delayed development, followed by progressive mental deterioration, although there are a small number of late-onset attenuated cases. The gene for NAGLU has been fully characterized and we report the molecular analysis of 18 Sanfilippo B families. In total, 34 of the 36 mutant alleles were characterized in this study and 20 different mutations were identified including 8 novel changes (R38W, V77G, 407-410del4, 703delT, A246P, Y335C, 1487delT, E639X). The four novel missense mutations were transiently expressed in Chinese hamster ovary cells and all were shown to decrease the NAGLU activity markedly, although A246P did produce 12.7% residual enzyme activity.
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