• Publications
  • Influence
Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development
Sphingolipidoses are severe, mostly infantile lysosomal storage disorders (LSDs) caused by defective glycosphingolipid degradation. Two of these sphingolipidoses, Tay Sachs and Sandhoff diseases, areExpand
  • 10
  • 2
Homogeneous immunoglobulins in the serum of irradiated and bone marrow reconstituted mice: the role of thymus and spleen.
The influence of thymectomy and splenectomy on the frequency and class distribution of homogeneous immunoglobulins (H-Ig) in serum was studied in lethally irradiated (DBA/2 x C57Bl/Rij)F1 miceExpand
  • 5
  • 1
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases
Developmental and/or epileptic encephalopathies (DEEs) are a group of devastating genetic disorders, resulting in early onset, therapy resistant seizures and developmental delay. Here we report on 12Expand
  • 9
  • 1
Monoclonal gammapathies in long-term surviving rhesus monkeys after lethal irradiation and bone marrow transplantation.
Late effects of total body irradiation and subsequent autologous bone marrow transplantation on the development of age-related monoclonal gammapathies (MG) were studied in 14 long-term survivingExpand
  • 5
  • 1
Binding of secretory piece to polymeric IgA and IgM paraproteins in vitro.
By means of immunoelectrophoresis and the immunoselection technique the binding of free secretory piece to serum paraproteins of different classes was studied in vitro. Only the polymeric IgA and notExpand
  • 50
Idiopathic paraproteinaemia. I. Studies in an animal model--the ageing C57BL/KaLwRij mouse.
A search for a suitable animal model for studies on idiopathic paraproteinaemia showed that an age-dependent increase in the appearance of homogeneous immunoglobulins in serum was common to all ofExpand
  • 44
Serum immunoglobulins in nude mice and their heterozygous littermates during ageing.
Serum immunoglobulin (Ig) levels were investigated in 6, 40 and 110 week old congenitally athymic (nude) mice and their heterozygous littermates. Concentrations of IgM, IgG1, IgG2a, IgG2b, IgG3 andExpand
  • 27
Idiopathic paraproteinemia. III. Increased frequency of paraproteinemia in thymectomized aging C57BL/KaLwRij and CBA/BrARij mice.
The influence of thymectomy on the appearance of idiopathic paraproteinemia (IP) during aging was investigated in mice of the C57BL/KaLwRij and the CBA/BrARij strains, which under normal conditionsExpand
  • 24
Microfluorometric evaluation of the specificity of fluorescent antisera against mouse immunoglobulins with the defined antigen substrate spheres (DASS) system.
Highly purified MOPC-21 IgG1, MOPC-173 IgG2a, MOPC-195 IgG2b, MOPC-104 E IgM, and MOPC-315 IgA paraproteins, heterogeneous mouse IgG, Fab and Fc fragments of heterogeneous IgG were prepared andExpand
  • 10
Homogeneous immunoglobulins in sera of rhesus monkeys after lethal irradiation and bone marrow transplantation.
The immunoglobulin pattern in the sera of lethally irradiated and bone marrow transplanted Rhesus monkeys was studied during the reconstitution of their immune system. All of the irradiated monkeysExpand
  • 22