Genomes and Genes
- Niemann-pick disease type C: new aspects in a long published family - partial manifestations in heterozygotesKlaus Harzer
Neurometabolic Laboratory, Klinik fur Kinder und Jugendmedizin, University of Tubingen, Hoppe Seyler Str 1, D 72076, Tubingen, Germany
JIMD Rep 12:25-9. 2014..Feline NPC is known to model such a situation. For human diagnostic and clinical NPC management, the possibility of "heterozygous disease" should be kept in mind. ..
- Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe diseaseKlaus 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...
- 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 disordersKlaus 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...
- Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitroInge Krageloh-Mann
Department of Neuropediatrics and Neurometabolic Laboratory, Children s Hospital of the University of Tübingen, Hoppe Seyler Str 1, 72076 Tubingen, Germany
Eur J Paediatr Neurol . 2017..The deficiency of GALC leads to a galactosylceramide lipidosis in which lysosomal storage phenomena are seen almost only at the ultrastructural level...
- 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 humansKlaus Harzer
Neurometabolic Laboratory, Klinik fur Kinder und Jugendmedizin, University of Tubingen, Tubingen, Germany
Biochem Biophys Res Commun 423:308-12. 2012....
- In vitro analysis of multipotent mesenchymal stromal cells as potential cellular therapeutics in neurometabolic diseases in pediatric patientsIngo 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...
- NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypesPeter 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...
- Cholesterol storage and tau pathology in Niemann-Pick type C disease in the brainRoland Distl
Institut fur Anatomie, Charite, Humboldt Universitat, Berlin, Germany
J Pathol 200:104-11. 2003....
- Reduced brain cholesterol content in arylsulfatase A-deficient miceDieter 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...