Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome

Emmanuel Shapira; Ronald R. DeGregorio; Reuben Matalon; Henry L. Nadler

doi:10.1016/S0006-291X(75)80159-8

Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome

Emmanuel Shapira, Ronald R. DeGregorio, Reuben Matalon, Henry L. Nadler

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

A mutant arylsulfatase B form is described in skin fibroblasts from a patient with Maroteaux-Lamy syndrome. This mutant enzyme is identical in its electrophoretic mobility and antigenic determinants to arylsulfatase B from normal fibroblasts but has a markedly reduced (15%) specific activity.

Original language	English (US)
Pages (from-to)	448-455
Number of pages	8
Journal	Biochemical and Biophysical Research Communications
Volume	62
Issue number	2
DOIs	https://doi.org/10.1016/S0006-291X(75)80159-8
State	Published - Jan 20 1975
Externally published	Yes

ASJC Scopus subject areas

Biophysics
Biochemistry
Molecular Biology
Cell Biology

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10.1016/S0006-291X(75)80159-8

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title = "Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome",

abstract = "A mutant arylsulfatase B form is described in skin fibroblasts from a patient with Maroteaux-Lamy syndrome. This mutant enzyme is identical in its electrophoretic mobility and antigenic determinants to arylsulfatase B from normal fibroblasts but has a markedly reduced (15%) specific activity.",

author = "Emmanuel Shapira and DeGregorio, {Ronald R.} and Reuben Matalon and Nadler, {Henry L.}",

note = "Funding Information: This investigation was supported by grants from The National Institutes",

year = "1975",

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AU - Shapira, Emmanuel

AU - DeGregorio, Ronald R.

AU - Matalon, Reuben

AU - Nadler, Henry L.

N1 - Funding Information: This investigation was supported by grants from The National Institutes

PY - 1975/1/20

Y1 - 1975/1/20

N2 - A mutant arylsulfatase B form is described in skin fibroblasts from a patient with Maroteaux-Lamy syndrome. This mutant enzyme is identical in its electrophoretic mobility and antigenic determinants to arylsulfatase B from normal fibroblasts but has a markedly reduced (15%) specific activity.

AB - A mutant arylsulfatase B form is described in skin fibroblasts from a patient with Maroteaux-Lamy syndrome. This mutant enzyme is identical in its electrophoretic mobility and antigenic determinants to arylsulfatase B from normal fibroblasts but has a markedly reduced (15%) specific activity.

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U2 - 10.1016/S0006-291X(75)80159-8

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AN - SCOPUS:0016431897

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JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

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ER -

Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome

Abstract

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