Results 171 to 180 of about 7,425 (206)

Arylsulfatase A in pseudodeficiency

Human Genetics, 1984
Arylsulfatase A (ASA) is found to be deficient in healthy individuals (pseudo arylsulfatase A deficiency) who usually show in vitro ASA levels in the range of metachromatic leukodystrophy patients. The in vitro properties of ASA in pseudodeficiency were studied in cultured fibroblasts.
B, Herz, G, Bach
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Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency

Molecular and Cellular Biochemistry, 1990
Deficient arylsulfatase-A activity is diagnostic of a neurodegenerative human lysosomal storage disease, metachromatic leukodystrophy. Paradoxically, similar enzyme deficiency also occurs in normal individuals, who are known as being pseudo arylsulfatase-A deficient. We showed previously that this phenotype is associated with a structural gene mutation
M, Ameen, D A, Lazzarino, B M, Kelly, C A, Gabel, P L, Chang   +4 more
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Arylsulfatase A pseudodeficiency in Chinese

Human Genetics, 1996
Arylsulfatase A (ASA) pseudodeficiency was found to be much rarer in Taiwan than in most western countries (2.5% versus 7.3%-20% carrier rate). The linkage of two mutations (A2725G and A1788G) in the pseudodeficiency allele was preserved in Chinese, and A2725G did not occur alone.
W L, Hwu, L P, Tsai, W C, Wang, S C, Chuang, P J, Wang, T R, Wang   +5 more
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Diagnosis of arylsulfatase A deficiency

American Journal of Medical Genetics, 1992
AbstractMetachromatic leukodystrophy (MLD) is a neurologically devastating autosomal recessive disorder in humans associated with deficient arylsulfatase A activity. However, clinically normal individuals described as being pseudo‐arylsulfatase‐A deficient also demonstrate the same deficiency.
Z G, Li, J S, Waye, P L, Chang
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A Km mutant of arylsulfatase A

Clinica Chimica Acta, 1982
Abstract The apparent Michealis constant for p-nitrocatechol sulfate of arylsulfatase A of fibroblasts of a metachromatic leukodystrophy patient has been determined and compared to that of normal controls. Control cells gave an apparent Km of 0.7 mmol/l, while the apparent Km of patient's cells was determined to be 19.8 mmol/l.
A M, Harben, N, Krawiecki, R, Marcus, F A, Hommes   +3 more
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Characterization of human arylsulfatase a glycans

International Journal of Biochemistry, 1994
Despite numerous studies on arylsulfatase A, the structure of the glycans present in each of its two subunits has not been determined. This is important because the carbohydrate component of human arylsulfatase A synthesized in tumor tissues and transformed cells has been shown to undergo apparent changes.
P, Laidler, A, Litynska, M, Galka-Walczak, B, Wojczyk   +3 more
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A new electrophoretic variant of arylsulfatase A

Biochemical Medicine and Metabolic Biology, 1988
Previous work in this laboratory has identified electrophoretic variant forms of arylsulfatase A in leucocyte plus platelets. During a study to replicate and extend these findings, a new seven-band variant of arylsulfatase A has been identified. Purified platelets gave a clearer, more distinct electrophoretic banding pattern than the leucocyte and ...
P, Manowitz, L V, Fine, R, Nora, S, Chokroverty, P E, Nathan, J M, Fazzaro   +5 more
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Specific determination of arylsulfatase A activity

Experientia, 1986
Arylsulfatase activities in biological materials are too low to be detected by the methods available hitherto. A sensitive and specific assay method for arylsulfatase A (AS-A) has been developed in the present study. Ascorbate-2-sulfate is known to be a specific natural substrate of AS-A; the ascorbic acid liberated by the action of AS-A was ...
H, Inoue, Y, Seyama, S, Yamashita
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Arylsulfatase A Pseudodeficiency - Incidence in Poland

European Journal of Human Genetics, 1996
Arylsulfatase A (ASA) pseudodeficiency (Pd) was defined as the in vitro measurement of low enzyme activity in a healthy person. A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy (MLD).
B, Czartoryska, J G, Zimowski, M, Bisko, D, Górska   +3 more
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Characterization of an arylsulfatase from a mutant library of Pseudoalteromonas carrageenovora arylsulfatase

International Journal of Biological Macromolecules, 2017
A library of Pseudoalteromonas carrageenovora arylsulfatase mutants was constructed by introducing random mutagenesis using error-prone PCR. After screening, one mutant strain was obtained whose arylsulfatase had improved thermal stability. Protein sequence analysis revealed one amino acid substitution of H260L.
Yanbing, Zhu, Han, Liu, Chaochao, Qiao, Lijun, Li, Zedong, Jiang, Anfeng, Xiao, Hui, Ni   +6 more
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