The Experts below are selected from a list of 27 Experts worldwide ranked by ideXlab platform
Charles H. Fish - One of the best experts on this subject based on the ideXlab platform.
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Metachromatic leukodystrophy caused by a partial Cerebroside Sulfatase defect
Clinical genetics, 2008Co-Authors: Hayato Kihara, Arvan L. Fluharty, John S. O'brien, Charles H. FishAbstract:A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylSulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with Cerebroside sulfate. In contrast, cultured fibroblasts contained about 10–20 % of normal arylSulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no Cerebroside Sulfatase activity. Growing fibroblasts in the Cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A reexamination of the Cerebroside Sulfatase reaction revealed that while only limited hydrolysis occurred with low concentrations of taurodeoxycholate or chelate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). This suggests that there is a partial Cerebroside Sulfatase defect in this atypical form of metachromatic leukodystrophy.
Matthijs Lopes-cardozo - One of the best experts on this subject based on the ideXlab platform.
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Developmental profiles of arylSulfatases A and B in rat cerebral cortex and spinal cord.
Biochimica et biophysica acta, 1991Co-Authors: Ron H.m. Van Der Pal, Wil Klein, Lambert M.g. Van Golde, Matthijs Lopes-cardozoAbstract:ArylSulfatases A (EC 3.1.6.1) and B (EC 3.1.6.12) are lysosomal enzymes that can remove sulfate groups from sulfatides and sulfo-glycosaminoglycans, respectively. The activities of these enzymes in cerebral cortex and in spinal cord of developing rat pups were measured. The tissues were homogenized and the arylSulfatases A and B in the soluble fraction were separated from each other by anion exchange chromatography on DE-52 cellulose. Subsequently, the enzyme activities were assayed with p -nitrocatechol sulfate as substrate at 37°C and pH 5.6. We observed a developmental profile of arylSulfatase A, similar to that previously reported for Cerebroside Sulfatase (EC 3.1.6.8; (Van der Pal et al. (1990) Biochim. Biophys. Acta 1043, 91–96)). The activity of arylSulfatase A increased gradually during development, whereas arylSulfatase B rose more steeply, peaked around day 15 and declined thereafter. As a consequence the ratio between B and A forms of arylSulfatase dropped from about 4 in 1-week-old pups to 2.2 (cortex) and 0.7 (cord) in 7-week-old rat pups.
Hayato Kihara - One of the best experts on this subject based on the ideXlab platform.
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Metachromatic leukodystrophy caused by a partial Cerebroside Sulfatase defect
Clinical genetics, 2008Co-Authors: Hayato Kihara, Arvan L. Fluharty, John S. O'brien, Charles H. FishAbstract:A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylSulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with Cerebroside sulfate. In contrast, cultured fibroblasts contained about 10–20 % of normal arylSulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no Cerebroside Sulfatase activity. Growing fibroblasts in the Cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A reexamination of the Cerebroside Sulfatase reaction revealed that while only limited hydrolysis occurred with low concentrations of taurodeoxycholate or chelate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). This suggests that there is a partial Cerebroside Sulfatase defect in this atypical form of metachromatic leukodystrophy.
Arvan L. Fluharty - One of the best experts on this subject based on the ideXlab platform.
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Metachromatic leukodystrophy caused by a partial Cerebroside Sulfatase defect
Clinical genetics, 2008Co-Authors: Hayato Kihara, Arvan L. Fluharty, John S. O'brien, Charles H. FishAbstract:A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylSulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with Cerebroside sulfate. In contrast, cultured fibroblasts contained about 10–20 % of normal arylSulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no Cerebroside Sulfatase activity. Growing fibroblasts in the Cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A reexamination of the Cerebroside Sulfatase reaction revealed that while only limited hydrolysis occurred with low concentrations of taurodeoxycholate or chelate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). This suggests that there is a partial Cerebroside Sulfatase defect in this atypical form of metachromatic leukodystrophy.
John S. O'brien - One of the best experts on this subject based on the ideXlab platform.
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Metachromatic leukodystrophy caused by a partial Cerebroside Sulfatase defect
Clinical genetics, 2008Co-Authors: Hayato Kihara, Arvan L. Fluharty, John S. O'brien, Charles H. FishAbstract:A patient with neuropathy and myopathy since infancy but whose neuropathy had been stable for a number of years showed a profound deficiency of arylSulfatase A in leukocytes and urine. Urine contained material that stained metachromatically and cochromatographed with Cerebroside sulfate. In contrast, cultured fibroblasts contained about 10–20 % of normal arylSulfatase A with properties identical to properties of normal fibroblast enzyme, except that it showed no Cerebroside Sulfatase activity. Growing fibroblasts in the Cerebroside sulfate loading test had an attenuated rate of sulfatide hydrolysis. A reexamination of the Cerebroside Sulfatase reaction revealed that while only limited hydrolysis occurred with low concentrations of taurodeoxycholate or chelate (type I activation), significant hydrolysis of the natural substrate did take place with high concentrations of cholate (type II activation). This suggests that there is a partial Cerebroside Sulfatase defect in this atypical form of metachromatic leukodystrophy.