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 Citations (Scopus)

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

Fingerprint

Mucopolysaccharidosis VI
N-Acetylgalactosamine-4-Sulfatase
Mutant Proteins
Fibroblasts
Electrophoretic mobility
Enzymes
Epitopes
Skin
Proteins

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology

Cite this

Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome. / Shapira, Emmanuel; DeGregorio, Ronald R.; Matalon, Reuben; Nadler, Henry L.

In: Biochemical and Biophysical Research Communications, Vol. 62, No. 2, 20.01.1975, p. 448-455.

Research output: Contribution to journalArticle

Shapira, Emmanuel ; DeGregorio, Ronald R. ; Matalon, Reuben ; Nadler, Henry L. / Reduced arylsulfatase B activity of the mutant enzyme protein in Maroteaux-Lamy syndrome. In: Biochemical and Biophysical Research Communications. 1975 ; Vol. 62, No. 2. pp. 448-455.
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