The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II

Gloria Bonuccelli, Paola Di Natale, Fabio Corsolini, Guglielmo Villani, Stefano Regis, Mirella Filocamo

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Mucopolysaccharidosis type II (Hunter syndrome; OMIM 309900) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13). Different alterations at the IDS locus, mostly missense mutations, have been demonstrated, by expression study, as deleterious, causing significant consequences on the enzyme function or stability. In the present study we report on the results of the transient expression of the novel K347T, 533delTT, N265I and the already described 473delTCC (previously named ΔS117) mutations in the COS 7 cells proving their functional consequence on IDS activity. This type of information is potentially useful for genotype-phenotype correlation, prognosis and possible therapeutic intervention.

Original languageEnglish
Pages (from-to)233-238
Number of pages6
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1537
Issue number3
DOIs
Publication statusPublished - Nov 29 2001

Fingerprint

Iduronate Sulfatase
Mucopolysaccharidosis II
Mutation
Genetic Databases
COS Cells
Genetic Association Studies
Missense Mutation
Enzymes
Therapeutics

Keywords

  • COS cell
  • Hunter syndrome
  • Iduronate-2-sulfatase
  • Mucopolysaccharidosis type II
  • Transient expression
  • Western blot

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biophysics

Cite this

The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. / Bonuccelli, Gloria; Di Natale, Paola; Corsolini, Fabio; Villani, Guglielmo; Regis, Stefano; Filocamo, Mirella.

In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1537, No. 3, 29.11.2001, p. 233-238.

Research output: Contribution to journalArticle

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