Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Arlt G, Brooks DA, Isbrandt D, Hopwood JJ, Bielicki J, Bradford TM, Bindloss-Petherbridge CA, von Figura K, Peters C.
J Biol Chem. 1994 Apr 1;269(13):9638-43.
PMID:8144552
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Isbrandt D, Arlt G, Brooks DA, Hopwood JJ, von Figura K, Peters C.
Am J Hum Genet. 1994 Mar;54(3):454-63.
PMID:8116615
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
Wicker G, Prill V, Brooks D, Gibson G, Hopwood J, von Figura K, Peters C.