Results 181 to 190 of about 7,425 (206)

Pseudodeficiency of arylsulfatase A: a counseling dilemma

Clinical Genetics, 1987
Arylsulfatase A (ASA) deficiency is the cause of early and late onset metachromatic leukodystrophy (MLD). Low ASA levels are detected in some healthy individuals who are pseudodefi‐cient (PD). PD individuals can be distinguished, because PD fibroblasts hydrolyze14C‐sulfatide at similar rates to normal fibroblasts.
S, Baldinger, M E, Pierpont, D A, Wenger
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A simple chromogenic assay for arylsulfatase A

Clinica Chimica Acta, 1987
Arylsulfatase A hydrolyzes the artificial chromogenic substrate 4-nitrocatechol-sulfate at 0 degree C at a rate of 24% of that at 37 degrees C whereas arylsulfatase B is almost inactive at 0 degree C. Based on this observation, a simple assay was developed which permits the accurate determination of low residual arylsulfatase A activities in cultured ...
M, Lee-Vaupel, E, Conzelmann
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Structure of the arylsulfatase A gene

European Journal of Biochemistry, 1990
A 14‐kb genomic clone containing the entire gene of human lysosomal arylsulfatase A was isolated. The arylsulfatase A gene is about 3.2 kb long and has eight exons (103–320 nucleotides in size). All intron–exon splice junctions conformed to the GT/AG consensus sequence.
J, Kreysing, K, von Figura, V, Gieselmann   +2 more
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Complex arylsulfatase A alleles causing metachromatic leukodystrophy

Human Mutation, 1994
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of a patient affected with late infantile metachromatic leukodystrophy revealed that the patient is a compound heterozygote of two alleles carrying two deleterious mutation each.
J, Kappler, H J, Sommerlade, K, von Figura, V, Gieselmann   +3 more
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Choroideremia with leukoencephalopathy and arylsulfatase A pseudodeficiency

Journal of the Neurological Sciences, 1996
A 33-year-old male patient was admitted to our hospital because of progressive gait disturbance and involuntary movement of the neck. He showed choroideremia, distal motor neuropathy, and leukoencephalopathy on T2-weighted brain magnetic resonance imaging (MRI).
W, Matsuyama, M, Kuriyama, M, Nakagawa, H, Kanazawa, S, Takenaga, S, Ijichi, M, Osame   +6 more
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Microheterogeneity of arylsulfatase a from human tissues

Biochimica et Biophysica Acta (BBA) - Enzymology, 1976
Human arylsulfatase A (cerebroside-3-sulfate 3-sulfohydrolase, EC 3.1.6.8) exhibited microheterogeneity on isoelectric focusing in polyacrylamide gels. Pure urinary enzyme gave 3 bands of activity with pI values of 4.7, 4.8 and 4.9, whereas purified liver enzyme yielded six equally spaced bands from pI 4.4 to 4.9.
R L, Stevens, A L, Fluharty, A R, Killgrove, H, Kihara   +3 more
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Delayed postanoxic demyelination and arylsulfatase‐A pseudodeficiency

Neurology, 1994
We report a patient with delayed postanoxic demyelination who had pseudodeficiency of arylsulfatase A, reducing his enzyme activity to 10 to 30% of normal. This may have implications regarding the pathogenesis of postanoxic demyelination.
L M, Weinberger, J W, Schmidley, I A, Schafer, S, Raghavan   +3 more
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Purification of arylsulfatase a from human urine

Biochemical and Biophysical Research Communications, 1972
Summary The purification of arylsulfatase A from human urine is described. The enzyme was isolated by ammonium sulfate precipitation, acetone fractionation, affinity chromatography, Sephadex G200 chromatography and preparative polyacrylamide gel electrophoresis.
J L, Breslow, H R, Sloan
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Pseudodeficiencies of Arylsulfatase A and Galactocerebrosidase Activities

Developmental Neuroscience, 1991
Pseudodeficiency is defined as the in vitro measurement of low activity (usually under 15% of the normal mean for controls) of an enzyme in a healthy person. They may be hard to distinguish from presymptomatic people who will present with adult-onset clinical disease.
D A, Wenger, E, Louie
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Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells

Human Mutation, 2017
Metachromatic leukodystrophy (MLD) is an autosomal-recessive lysosomal storage disease caused by mutations in the ARSA gene leading to arylsulfatase A (ARSA) deficiency and causing sulfatide accumulation. Main symptoms of the disease are progressive demyelination, neurological dysfunction, and reduced life expectancy.
Judith Böhringer, René Santer, Neele Schumacher, Friederike Gieseke, Kerstin Cornils, Maria Pechan, Birgit Kustermann‐Kuhn, Rupert Handgretinger, Ludger Schöls, Klaus Harzer, Ingeborg Krägeloh‐Mann, Ingo Müller   +11 more
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