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  1. No Access

    Article

    Subcellular localization of the oncoprotein MTG8 (CDR/ETO) in neural cells

    The t(8;21) translocation associated with acute myeloid leukemia (AML) disrupts two genes, the AML1 gene also known as the core binding factor A2 (CBFA2) on chromosome 21, and a gene on chromosome 8, hereafter re...

    N Sacchi, F Tamanini, R Willemsen, S Denis-Donini, S Campiglio, A T Hoogeveen in Oncogene (1998)

  2. No Access

    Article

    The fragile X syndrome

    The fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5′ untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. When the repeat is ...

    A. T. Hoogeveen, B. A. Oostra in Journal of Inherited Metabolic Disease (1997)

  3. No Access

    Article

    A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA)

    4-Methylumbelliferyl-α-d-N-sulphoglucosaminide (MU-α-GlcNS) was synthesized and shown to be a substrate for the lysosomal heparin sulphamidase. Sanfilippo A patients' fibroblasts (n=42) and lymphocytes (n=1) show...

    E. A. Karpova, Ya. V. Voznyi, J. L. M. Keulemans… in Journal of Inherited Metabolic Disease (1996)

  4. No Access

    Article

    A quantitative immunoelectronmicroscopic study on soluble, membrane-associated and membrane-bound lysosomal enzymes in human intestinal epithelial cells

    We have used quantitative immunoelectronmicroscopy to compare thein situ localization of acid α-glucosidase, lysosomal acid phosphatase, β-hexosaminidase and glucocerebrosidase in intestinal epithelial cells of t...

    R. Willemsen, R. Brünken, C. W. J. Sorber, A. T. Hoogeveen… in The Histochemical Journal (1991)

  5. No Access

    Article

    The presence of a reduced amount of 32-kd “protective” protein is a distinct biochemical finding in late infantile galactosialidosis

    The biochemical defect underlying the late infantile form of galactosialidosis has been investigated in fibroblasts from two patients presenting with this phenotype. Immunoprecipitation experiments demonstrate...

    P. Strisciuglio, G. Parenti, C. Giudice, S. Lijoi, A. T. Hoogeveen… in Human Genetics (1988)

  6. No Access

    Article

    Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: A comparative study with lysosomal enzymes and the mannose 6-phosphate receptor

    Immunocytochemistry was used to study the subcellular localization of steroid sulphatase in cultured human fibroblasts. Ultra-thin cryosections were incubated with antibodies raised against steroid sulphatase ...

    R. Willemsen, M. Kroos, A. T. Hoogeveen, J. M. Van Dongen… in The Histochemical Journal (1988)

  7. No Access

    Article

    Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency

    Immunologically cross-reacting material to antibodies against steroid sulphatase has not been found in fibroblasts from patients with steroid sulphatase deficiency.

    G. Parenti, A. Ballabio, A. T. Hoogeveen… in Journal of Inherited Metabolic Disease (1987)

  8. No Access

    Chapter

    Immunoelectron Microscopical Localization of Lysosomal Hydrolases in Normal and I-Cell Fibroblasts

    In fibroblasts newly synthesized lysosomal enzymes are transported to the lysosomes by means of the mannose 6-phosphate markerreceptor system [1]. This transport mechanism is defective in fibroblasts from pati...

    R. Willemsen, A. T. Hoogeveen… in Cells, Membranes, and Disease, Including R… (1987)

  9. No Access

    Article

    Ganglioside GM1 metabolism in living human fibroblasts with β-galactosidase deficiency

    The uptake and catabolism of [3H-ceramide]-GM1 was followed in living fibroblasts from patient with different forms of β-galactosidase deficiency. Gangliosides are identified according to the nomenclature of Sven...

    G. M. S. Mancini, A. T. Hoogeveen, H. Galjaard, J. E. Mansson… in Human Genetics (1986)

  10. No Access

    Article

    Sucrase-isomaltase and cystic fibrosis

    The intestinal microvillar enzyme complex sucrase-isomaltase has been studied in cystic fibrosis and control ileum. A number of biochemical parameters of the enzyme in ileum homogenates have been determined. B...

    H. J. Sips, A. H. W. Claass, J. M. van Dongen… in Journal of Inherited Metabolic Disease (1985)

  11. No Access

    Article

    Genetic complementation in somatic cell hybrids of four variants of infantile GM2 gangliosidosis

    Cell hybridizations between fibroblasts of four variants (B, O, AB, and B1) of infantile GM2 gangliosidosis were performed. Cocultivated as well as hybrid cells were analyzed for their capability to degrade exoge...

    S. Sonderfeld, S. Brendler, K. Sandhoff, H. Galjaard, A. T. Hoogeveen in Human Genetics (1985)

  12. No Access

    Article

    Genetic heterogeneity in human neuraminidase deficiency

    There is a deficiency of human α-N-acetylneuraminidase in several inherited diseases. In patients with mucolipidosis I (refs 1, 2) and in adults with a variant form without bony abnormalities and mental retardati...

    A. T. Hoogeveen, F. W. Verheijen, A. d'Azzo, H. Galjaard in Nature (1980)

  13. No Access

    Article

    Characterization of residual hexosaminidase activity in Sandhoff's disease using man-Chinese hamster cell hybrids

    To obtain information about the nature of the residual hexosaminidase activity in Sandhoff's disease, hybrid cell lines between fibroblasts from a patients with Sandhoff's disease and Chinese hamster cells wer...

    H. L. Hoeksema, A. J. J. Reuser, A. T. Hoogeveen, A. Westerveld… in Human Genetics (1977)