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  • 1
    Electronic Resource
    Electronic Resource
    Juvenile GM2-Gangliosidose mit veränderter Substratspezifität der Hexosaminidase A (1974)
    Springer
    Acta neuropathologica 27 (1974), S. 225-232 
    Details
    ISSN: 1432-0533
    Keywords: GM2 Gangliosidosis ; Juvenile Type ; Biochemistry ; Hexosaminidase A ; Altered Substrate Specifity ; Galactosaminidase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The N-acetyl-β-d-hexosaminidases A and B were extracted from the liver tissue of a patient who died from juvenile GM2-gangliosidosis at the age of $$14{1 \mathord{\left/ {\vphantom {1 2}} \right. \kern-\nulldelimiterspace} 2}$$ years. The enzymes were separated from each other and studied in comparison to enzyme preparations from normal tissue. The kinetic parameters studied (pH profiles, Michaelis constants, heat lability) and the substrate specificity of the B-enzyme appeared normal. The activity of the A-enzyme against two artificial substrates was lowered in the pathological tissue to 53% and 41% of the control and to 27% of the control against the storage compound trihexosylceramide (ceramide-glucose-galactose-N-acetylgalactosamine). Furthermore, using the main storage compound ganglioside GM2 (ceramide-glucose-galactose-[N-acetylneuraminic acid]-N-acetylgalactosamine) as substrate, no N-acetyl-β-d-galactosaminidase activity was found in the extracts from pathological liver tissue.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00687632
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  • 2
    Electronic Resource
    Electronic Resource
    Enzymatische Untersuchungen im Blut von Überträgern einer Variante der Tay-Sachsschen Erkrankung (Variate O) (1971)
    Springer
    Journal of molecular medicine 49 (1971), S. 1189-1191 
    Details
    ISSN: 1432-1440
    Keywords: Tay-Sachs disease ; hexosaminidases ; heterozygous carriers ; Tay-Sachssche Erkrankung ; Hexosaminidasen ; Heterozygote
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über Enzymuntersuchungen im Blut bzw. Gewebe von Patienten mit Tay-Sachsscher Erkrankung, Variante O, und im Blut von heterozygoten Überträgern dieser Variante berichtet. Dem fast vollständigen Mangel der N-Acetyl-β-D-hexosaminidasen A und B bei den erkrankten Kindern entspricht eine Erniedrigung des Enzym-A-Spiegels auf ca. 60, des B-Spiegels auf ca. 40 und der gesamten Hexosaminidase-Aktivität auf ca. 50% der Norm im Blut der Heterozygoten. Die Auftrennung der Enzyme A und B erfolgte aus Leukocytenextrakt und Blutplasma mit mikroanalytischer, isoelektrischer Fokussierung. Die Frage der genetischen Beziehung zwischen den Enzymen A und B wird diskutiert.—Die Enzymbestimmungen bei den Personen von 2 Stammbäumen ergeben, daß die Tay-Sachs-Variante O recessiv vererbt wird. Mit Untersuchungen der beschriebenen Art ist die genetische Beratung von Familien, in denen die Tay-Sachssche Erkrankung vorkommt, möglich.
    Notes: Summary The N-acety-β-D-hexosaminidase activitites in the blood and tissue of patients with the variant O of Tay-Sachs disease and in the blood of the corresponding heterozygous carriers were investigated. Both hexosaminidase A and B were missing in the Tay-Sachs patients. In the blood of the heterozygotes the A activity was found to be reduced to about 60% the B activity to about 40% and the total hexosaminidase activity to about 50% of the normal controls. The two enzymes were separated from each other by microanalytical isoelectric focusing. The genetic relationship between enzymes A and B is discussed.—The enzyme levels of the members of two pedigrees show that the Tay-Sachs variant O is a recessively inherited disease. The described methods provide a tool for the heterozygote detection in families with a risk of giving birth to Tay-Sachs children.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01732464
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  • 3
    Electronic Resource
    Electronic Resource
    Prenatal diagnosis of tay-sachs disease in cell-free amniotic fluid (1978)
    Springer
    Journal of molecular medicine 56 (1978), S. 1133-1135 
    Details
    ISSN: 1432-1440
    Keywords: Isoelektrische Fokussierung ; Zellfreie Amnionflüssigkeit ; Hexosaminidase X ; Tay-Sachs ; Pränatale Diagnose ; Isoelectric focusing ; Cell-free amniotic fluid ; Hexosaminidase X ; Tay-Sachs disease ; Prenatal diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The diagnosis of 6 known Tay-Sachs cases was confirmed by isoelectric focusing of the cell-free amniotic fluid. The presence of an additional-hitherto unknown-heatstable, acid hexosaminidase X in normal and pathological amniotic fluids must be taken into account especially when the heat denaturation method of detecting Tay-Sachs disease is applied. Hexosaminidase X shows some properties similar to those of hexosaminidase B.
    Notes: Zusammenfassung Durch isoelektrische Fokussierung der zellfreien Amnionflüssigkeit konnte die Diagnose bei sechs gesicherten Tay-Sachs Fällen bestätigt werden. Das Auftreten einer bisher unbekannten aciden und hitzestabilen Hexosaminidase X sowohl in normalen wie auch in pathologischen zellfreien Amnionflüssigkeiten muß bei der pränatalen Diagnose der Tay-Sachsschen Erkrankung berücksichtigt werden, insbesondere wenn die Hitzeinaktivierungsmethode angewendet wird. Hexosaminidase X zeigt ähnliche Eigenschaften wie Hexosaminidase B.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01477136
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  • 4
    Electronic Resource
    Electronic Resource
    Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 513-518 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Cultured skin fibroblasts from controls and patients with lysosomal storage diseases were loaded with GM1 ganglioside that had been labelled with tritium in its ceramide moiety. After a 65-h or 240-h incubation, a large percentage of this ganglioside remained undegraded in GM1 gangliosidoses, whereas in the other storage diseases studied, one of its metabolites accumulated by 2–4 fold relative to controls. Labelled GM2 ganglioside accumulated in 4 variants of GM2 gangliosidosis, whereas labelled GM3 ganglioside accumulated in sialidosis, galactosialidoses and sphingolipid activator protein 1 (SAP-1, saposin B) and prosaposin (saposin A, B, C an D) deficient lipidoses. The reduced degradation of GM3 ganglioside in the SAP-1 and prosaposin deficiencies was attributed to the deficient function of SAP-1. The prosaposin deficient cells also showed a reduced re-utilization of radioactive metabolites from GM1 ganglioside (i.e. sphingosine and fatty acid) for phospholipid biosynthesis compared with fibroblasts from the SAP-1 deficient patient or normal controls. This anomaly was ascribed to the previously shown defect in ceramide degradation in prosaposin deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219176
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  • 5
    Electronic Resource
    Electronic Resource
    Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease (1992)
    Springer
    Human genetics 〈Berlin〉 88 (1992), S. 513-523 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A previously suggested model for the correlation between residual activity of a lysosomal enzyme and the turnover rate of its substrate(s) has been extended to a discussion of substrate accumulation rates in individual cells and whole organs. With these considerations, much of the observed variability in age of onset and clinical phenotype, as well as the phenomenon of pseudodeficiency, can be understood as the consequences of small differences in the residual activity of the affected enzyme. In order to experimentally verify the basic assumptions on which this model rests, studies were performed in cell culture. The radiolabeled substrates ganglioside GM2 and sulfatide were added to cultures of skin fibroblasts with different activities of β-hexosaminidase A or arylsulfatase A, respectively, and their uptake and turnover measured. In both series of experiments, the correlation between residual enzyme activity and the turnover rate of the substrate was essentially as predicted: degradation increased steeply with residual activity, to reach the control level at a residual activity of approximately 10–15% of normal. All cells with an activity above this critical threshold had a normal turnover. Comparison of the results of these feeding studies with the clinical status of the donor of each cell line basically confirmed our notions but also revealed the limitations of the cell culture approach.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00219337
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  • 6
    Electronic Resource
    Electronic Resource
    Wolman's disease: Clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification (1980)
    Springer
    European journal of pediatrics 135 (1980), S. 45-53 
    Details
    ISSN: 1432-1076
    Keywords: Wolman's disease ; Storage ; Cholesterylester ; Triglycerides ; Acid lipase ; Adrenal calcification ; Dyserythropoietic changes ; Foam cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445892
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  • 7
    Electronic Resource
    Electronic Resource
    Induction of apoptosis by synthetic ceramide analogues in the human keratinocyte cell line HaCaT (1998)
    Oxford, UK : Blackwell Publishing Ltd
    Experimental dermatology 7 (1998), S. 0 
    Details
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: In contrast to extracellular, long chain ceramides which comprise a structural component of the epidermal water barrier, intracellular ceramides originating from sphingomyelin hydrolysis have been shown to inhibit proliferation and to induce apoptosis in different cell populations. To further elucidate the possible role of intracellular ceramides in human epidermis, two new cell-permeable ceramide analogues, N-thioacetylsphingosine (C2-Cer=S) and 4-dodecanoylamino-decan-5-ol (FS-5), were synthesized and tested for their ability to suppress cell growth and to induce apoptosis in immortalized human keratinocytes. It was shown that the well-investigated ceramide analogue N-acetylsphingosine (C2-Cer=O), as well as the new compound C2-Cer=S inhibited proliferation of HaCaT cells with half-inhibitory concentrations (IC50) of 20 μg/ml and 10 μg/ml, respectively, whereas FS-5 has been potent with an IC50〉40 μg/ml. Overall, all three ceramide analogues induced apoptosis in HaCaT cells as assessed by DNA-fragmentation using ELISA technique and in situ nick end labelling, thereby confirming the importance of ceramide signalling in keratinocytes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0625.1998.tb00334.x
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  • 8
    Electronic Resource
    Electronic Resource
    Identity of the activator proteins for the enzymatic hydrolysis of sulfatide, ganglioside G"M"1, and globotriaosylceramide
    Amsterdam : Elsevier
    Archives of Biochemistry and Biophysics 259 (1987), S. 627-638 
    Details
    ISSN: 0003-9861
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0003-9861(87)90529-7
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  • 9
    Electronic Resource
    Electronic Resource
    Sphingolipid Activator Protein D (sap-D) Stimulates the Lysosomal Degradation of Ceramide in Vivo
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 200 (1994), S. 1440-1448 
    Details
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1006/bbrc.1994.1612
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  • 10
    Electronic Resource
    Electronic Resource
    Molecular basis of acid sphingomyelinase dificiency in a patient with Niemann-Pick disease type A
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 179 (1991), S. 1187-1191 
    Details
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0006-291X(91)91697-B
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