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 journalArticle

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 languageEnglish (US)
Pages (from-to)448-455
Number of pages8
JournalBiochemical and Biophysical Research Communications
Volume62
Issue number2
DOIs
StatePublished - Jan 20 1975
Externally publishedYes

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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