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Article

Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.

The Journal of biological chemistry - 24 Dec 1999

Perkins K J, Byers S, Yogalingam G, Weber B, Hopwood J J

Abstract excerpt

Mucopolysaccharidosis IIIA (MPS-IIIA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of sulfamidase (NS; EC 3.10.1.1), resulting in defective degradation and storage of heparan sulfate. This paper reports the production and characterization of monoclonal and polyclonal antibodies against recombinant human sulfamidase (rhNS) to quantitate and characterize normal and mutant...

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Identifiers

PMID: 10601282
DOI: 10.1074/jbc.274.52.37193

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.PMID 10601282Read ↗

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Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIASemantic proximity Read ↗

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.Semantic proximity Read ↗

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