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

doi:10.1016/S0925-4439(01)00075-8

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article

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 language	English
Pages (from-to)	233-238
Number of pages	6
Journal	Biochimica et Biophysica Acta - Molecular Basis of Disease
Volume	1537
Issue number	3
DOIs	https://doi.org/10.1016/S0925-4439(01)00075-8
Publication status	Published - Nov 29 2001

Keywords

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

ASJC Scopus subject areas

Molecular Biology
Molecular Medicine
Biophysics

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Bonuccelli, G., Di Natale, P., Corsolini, F., Villani, G., Regis, S., & Filocamo, M. (2001). The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. Biochimica et Biophysica Acta - Molecular Basis of Disease, 1537(3), 233-238. https://doi.org/10.1016/S0925-4439(01)00075-8

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 journal › Article

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

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.",

keywords = "COS cell, Hunter syndrome, Iduronate-2-sulfatase, Mucopolysaccharidosis type II, Transient expression, Western blot",

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