Pseudo arylsulfatase A deficiency Biosynthesis of an abnormal arylsulfatase A
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چکیده
منابع مشابه
Retinal pigment epithelial degeneration associated with leukocytic arylsulfatase A deficiency.
A family exhibiting a leukocytic arylsulfatase A deficiency, probably inherited in an autosomal recessive manner, differed from patients with typical metachromatic leukodystrophy in that sulfatiduria was absent and there was readily detectable cerebroside sulfatase activity. To our knowledge, this family was unique in that there were no known members with metachromatic leukodystrophy and the on...
متن کاملPseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.
Metachromatic leukodystrophy is a hereditary neurodegenerative disorder in man associated with deficient arylsulfatase-A activity (aryl-sulfate sulfohydrolase, EC 3.1.6.1). The same enzyme deficiency has been noted in clinically normal individuals, a condition known as pseudo arylsulfatase-A deficiency. With a nonselective method, somatic cell hybrids were obtained from cultured fibroblasts of ...
متن کاملMetachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures.
Fibroblasts cultured from the skin of a patient with metachromatic leukodystrophy have been found to manifest the biochemical defect of this inborn error of metabolism, a deficiency of arylsulfatase A. Diseased cells had less than five per cent of normal arylsulfatase-A activity, while activities of other lysosomal enzymes-including arylsulfatase B, beta-galactosidase, beta-glucuronidase, and b...
متن کاملComparative and Evolutionary Studies of Vertebrate Arylsulfatase B, Arylsulfatase I and Arylsulfatase J Genes and Proteins: Evidence for an ARSB-like Sub-family
Multiple sulfatase genes have been reported on the human genome, including Arylsulfatase B (ARSB), Arylsulfatase I (ARSI) and Arylsulfatase J (ARSJ). ARSB is localized in lysosomes and catalyses the hydrolysis of chondroitin and dermatan sulfate groups. Bioinformatic analyses of vertebrate genomes were undertaken using known human ARSB, ARSI and ARSJ amino acid sequences to study the relatednes...
متن کاملArylsulfatase A pseudodeficiency in healthy Brazilian individuals.
Molecular alterations associated with arylsulfatase A pseudodeficiency (ASA-PD) were characterized by PCR and restriction endonuclease analysis in a sample of healthy individuals from Brazil. ASA activity was also assayed in all subjects. Two individuals homozygous for the N350S and 1524+95A<--G mutations were detected, corresponding to a frequency of 1.17% (4 of 324 alleles). The individual fr...
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ژورنال
عنوان ژورنال: FEBS Letters
سال: 1987
ISSN: 0014-5793
DOI: 10.1016/0014-5793(87)81204-8