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Arylsulfatase A polypeptides were examined in cultured fibroblasts from a patient with juvenile metachromatic leukodystrophy and three patients with the adult form of the disease, with the aid of metabolic labeling and immunoprecipitation. The mutant cells were severely deficient in the arylsulfatase polypeptides. The apparent rate of synthesis, however, as estimated from the secretion of polypeptides or activity by cells incubated in the presence of 10 mM NH4Cl was 20-50% of control. In the absence of NH4Cl, the mutant enzyme was rapidly degraded upon transport into lysosomes. In the presence of inhibitors of thiol proteinases arylsulfatase A polypeptides were partially protected from degradation, and the catalytic activity of arylsulfatase A was increased. In addition, the treatment partially corrected the capacity of the cells to degrade cerebroside sulfates. Inhibitors of thiol proteinases may be of therapeutic value in variants of metachromatic leukodystrophy, in which an unstable arylsulfatase A is synthesized.
K von Figura, and
F Steckel, and
A Hasilik
April 1982,
Clinical genetics,
K von Figura, and
F Steckel, and
A Hasilik
November 1981,
American journal of human genetics,
K von Figura, and
F Steckel, and
A Hasilik
March 1977,
American journal of human genetics,
K von Figura, and
F Steckel, and
A Hasilik
August 1971,
Biochemical and biophysical research communications,
K von Figura, and
F Steckel, and
A Hasilik
January 1985,
Biological psychiatry,
K von Figura, and
F Steckel, and
A Hasilik
January 1975,
UCLA forum in medical sciences,
K von Figura, and
F Steckel, and
A Hasilik
July 1972,
Archives of neurology,
K von Figura, and
F Steckel, and
A Hasilik
April 1988,
Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme,
K von Figura, and
F Steckel, and
A Hasilik
April 1995,
Archives of neurology,
K von Figura, and
F Steckel, and
A Hasilik
February 1969,
Archives of neurology,
