Enhancement of Residual Arylsulfatase B Activity in Feline Mucopolysaccharidosis VI by Thiol-induced Subunit Association
نویسندگان
چکیده
منابع مشابه
Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI.
Feline mucopolysaccharidosis VI (MPS VI) is a recessively inherited lysosomal storage disease resulting from a deficiency of arylsulfatase B (ASB). Previous histopathologic findings have indicated that the disease is expressed morphologically in non-pigmented retinal pigment epithelial cells (RPE) in the posterior pole and superior equatorial regions by the accumulation of vacuolated inclusions...
متن کاملIdentification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-VI Patients with Different Phenotype Severity
Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Method...
متن کاملArylsulfatase B-deficient mucopolysaccharidosis in rats.
A rat colony with mucopolysaccharidosis VI was established and the clinical, pathological, and biochemical features were characterized. Affected rats had facial dysmorphia, dysostosis multiplex, and increased urinary excretion of glucosaminoglycans (GAGs). Ultrastructural studies revealed storage of GAGs throughout the reticuloendothelial cells, cartilage, and other connective tissues, but no d...
متن کاملThe pathology of the feline model of mucopolysaccharidosis VI.
Three cats with feline arylsulfatase-B--deficient mucopolysaccharidosis were studied by light and transmission electron microscopy. Membrane-bound cytoplasmic inclusions were present in hepatocytes, bone marrow granulocytes, vascular smooth muscle cells, and fibroblasts in skin, cornea, and cardiac valves. Central nervous system lesions were restricted to mild ventricular dilatation, perithelia...
متن کاملFeline mucopolysaccharidosis VI: General ocular and pigment epithelial pathology.
Feline mucopolysaccharidosis VI (MPS VI) is a recessively inherited deficiency of arylsulfatase B (ASB). In the eye, the disease is expressed by the intracytoplasmic accumulation of vacuolated inclusions. These are present in connective tissue cells in the cornea, conjunctiva, sclera, choroid, and the stroma of the iris and ciliary body. In the iris and ciliary body epithelia, only the nonpigme...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1982
ISSN: 0021-9738
DOI: 10.1172/jci110452