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 | |
| Publication status | Published - Nov 29 2001 |
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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 journal › Article
}
TY - JOUR
T1 - The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II
AU - Bonuccelli, Gloria
AU - Di Natale, Paola
AU - Corsolini, Fabio
AU - Villani, Guglielmo
AU - Regis, Stefano
AU - Filocamo, Mirella
PY - 2001/11/29
Y1 - 2001/11/29
N2 - 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.
AB - 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.
KW - COS cell
KW - Hunter syndrome
KW - Iduronate-2-sulfatase
KW - Mucopolysaccharidosis type II
KW - Transient expression
KW - Western blot
UR - http://www.scopus.com/inward/record.url?scp=0035969541&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035969541&partnerID=8YFLogxK
U2 - 10.1016/S0925-4439(01)00075-8
DO - 10.1016/S0925-4439(01)00075-8
M3 - Article
C2 - 11731225
AN - SCOPUS:0035969541
VL - 1537
SP - 233
EP - 238
JO - Biochimica et Biophysica Acta - Molecular Basis of Disease
JF - Biochimica et Biophysica Acta - Molecular Basis of Disease
SN - 0925-4439
IS - 3
ER -