Klaus Harzer

Summary

Country: Germany

Publications

  1. ncbi Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease
    Klaus Harzer
    Institut für Hirnforschung, Universitat Tubingen, Calwer Strasse 3, D 72076, Tubingen, Germany
    Clin Chim Acta 317:77-84. 2002
  2. ncbi Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders
    Klaus Harzer
    Institut für Hirnforschung, Universitat Tubingen, Calwer Strasse 3, Germany
    FEBS Lett 537:177-81. 2003
  3. ncbi Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans
    Klaus Harzer
    Neurometabolic Laboratory, Klinik fur Kinder und Jugendmedizin, University of Tubingen, Tubingen, Germany
    Biochem Biophys Res Commun 423:308-12. 2012
  4. ncbi In vitro analysis of multipotent mesenchymal stromal cells as potential cellular therapeutics in neurometabolic diseases in pediatric patients
    Ingo Müller
    University Children s Hospital, Tubingen, Germany
    Exp Hematol 34:1413-9. 2006
  5. ncbi NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes
    Peter Bauer
    Universitat Rostock, Klinik für Neurologie und Poliklinik, Neurobiologisches Labor, Rostock, Germany
    Hum Mutat 19:30-8. 2002
  6. ncbi Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain
    Roland Distl
    Institut fur Anatomie, Charite, Humboldt Universitat, Berlin, Germany
    J Pathol 200:104-11. 2003
  7. ncbi Reduced brain cholesterol content in arylsulfatase A-deficient mice
    Dieter Lutjohann
    Institute of Clinical Pharmacology, University of Bonn, Germany
    Biochem Biophys Res Commun 344:647-50. 2006

Collaborators

Detail Information

Publications7

  1. ncbi Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease
    Klaus Harzer
    Institut für Hirnforschung, Universitat Tubingen, Calwer Strasse 3, D 72076, Tubingen, Germany
    Clin Chim Acta 317:77-84. 2002
    ..About 90% of GLD patients have an infantile course by fatal cerebral demyelination, but 10% have a later onset (LOGLD) of symptoms and survive for one or several decades...
  2. ncbi Concurrent increase of cholesterol, sphingomyelin and glucosylceramide in the spleen from non-neurologic Niemann-Pick type C patients but also patients possibly affected with other lipid trafficking disorders
    Klaus Harzer
    Institut für Hirnforschung, Universitat Tubingen, Calwer Strasse 3, Germany
    FEBS Lett 537:177-81. 2003
    ..The Acc-CSG pattern was considered to be similar to the lipid pattern known for the lipid rafts, these functional cell structures being probably disorganised and accumulated in late endosomes and lysosomes of NPC cells...
  3. ncbi Beta-glucosidase 1 (GBA1) is a second bile acid β-glucosidase in addition to β-glucosidase 2 (GBA2). Study in β-glucosidase deficient mice and humans
    Klaus Harzer
    Neurometabolic Laboratory, Klinik fur Kinder und Jugendmedizin, University of Tubingen, Tubingen, Germany
    Biochem Biophys Res Commun 423:308-12. 2012
    ....
  4. ncbi In vitro analysis of multipotent mesenchymal stromal cells as potential cellular therapeutics in neurometabolic diseases in pediatric patients
    Ingo Müller
    University Children s Hospital, Tubingen, Germany
    Exp Hematol 34:1413-9. 2006
    ..Given the plasticity of MSCs, these cells represent an interesting add-on option for cellular therapy in children undergoing bone marrow transplantation for lysosomal storage diseases and other neurometabolic diseases...
  5. ncbi NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes
    Peter Bauer
    Universitat Rostock, Klinik für Neurologie und Poliklinik, Neurobiologisches Labor, Rostock, Germany
    Hum Mutat 19:30-8. 2002
    ..007; 2-sided Fisher exact test) suggesting the possibility of an influence of the haplotypic background on expression of missense mutations in NPC1...
  6. ncbi Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brain
    Roland Distl
    Institut fur Anatomie, Charite, Humboldt Universitat, Berlin, Germany
    J Pathol 200:104-11. 2003
    ....
  7. ncbi Reduced brain cholesterol content in arylsulfatase A-deficient mice
    Dieter Lutjohann
    Institute of Clinical Pharmacology, University of Bonn, Germany
    Biochem Biophys Res Commun 344:647-50. 2006
    ..Since high cholesterol levels are important for myelination, and various cellular processes, like vesicular trafficking and signal transduction, reduced cholesterol levels might be an important factor in the molecular pathology of MLD...