Article
Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
The Journal of biological chemistry - 1 Apr 1994
Arlt G, Brooks D A, Isbrandt D, Hopwood J J, Bielicki J, Bradford T M, Bindloss-Petherbridge C A, von Figura K, Peters C
Abstract excerpt
A deficiency of the enzyme arylsulfatase B results in the lysosomal storage disorder Maroteaux-Lamy syndrome or mucopolysaccharidosis type VI. Severe, intermediate and mild forms of this autosomal recessively inherited disease can be clinically differentiated. To determine the molecular defect in a patient with the intermediate form of the disorder, DNA fragments generated from the patient's mRNA by reverse...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Child
- Chondro-4-Sulfatase
- Cloning, Molecular
- Codon
- DNA
- DNA Primers
- Frameshift Mutation