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Expression and functional characterization of human mutant sulfamidase in insect cells.

Molecular genetics and metabolism - 1 Nov 2004

Montfort Magda, Garrido Elena, Hopwood John J, Grinberg Daniel, Chabás Amparo, Vilageliu Lluïsa

Abstract excerpt

Mucopolysaccharidosis IIIA (MPS IIIA; Sanfilippo syndrome) is an autosomal recessive lysosomal disorder caused by the deficiency of sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. The molecular defects of 26 unrelated Spanish MPS IIIA patients were recently reported by our group. Here we describe the heterologous expression, using a baculovirus system, of the...

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Identifiers

PMID: 15542396
DOI: 10.1016/j.ymgme.2004.07.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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