• Publications
  • Influence
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study
TLDR
A high frequency of Fabry disease is shown in a cohort of patients with cryptogenic stroke, which corresponds to about 1.2% in young stroke patients, especially in those with the combination of infarction in the vertebrobasilar artery system and proteinuria. Expand
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis
TLDR
Clinical heterogeneity may be caused by rather diverse substrate specificities and functions of lysosomal hydrolases, multifunctional properties of SAPs, and the strong regulation of ganglioside catabolism by membrane lipids. Expand
Leukodystrophy incidence in Germany.
TLDR
Through a survey of all departments of pediatrics, neurology and neuropathology in Germany, the incidence of all major forms of leukodystrophy is calculated and ALD/AMN is apparently underdiagnosed. Expand
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease
TLDR
Using proton magnetic resonance analysis on formaldehyde-fixed tissue the stored CTH was identified as globotriaosylceramide and was enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells. Expand
Cholesterol storage and tau pathology in Niemann–Pick type C disease in the brain
TLDR
Using filipin fluorometry of neuronal cells in tissue slices, it is found massive accumulation of cholesterol in neurons in four out of five human Niemann–Pick type C cases including adult patients and awakens interest in the role of impaired cholesterol metabolism in the development of neurofibrillary tangles in both diseases. Expand
Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the
TLDR
All five mutant alleles definitively correlated with the "variant" phenotype clustered within this loop, providing new insight on the functional complexity of the latter domain. Expand
ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY‐SACHS DISEASE
In autopsy tissues of 12 cases of Tay‐Sachs disease the N‐acetyl‐β‐hexosamini‐dase A and B activities were investigated using chromogenic and physiological substrates.
Acidic Sphingomyelinase Mediates Entry of N. gonorrhoeae into Nonphagocytic Cells
TLDR
An activation of the phosphatidylcholine-specific phospholipase C (PC-PLC) and acidic sphingomyelinase (ASM) is shown to be an essential requirement for the entry of N. gonorrhoeae into distinct nonphagocytic human cell types including several epithelial cells and primary fibroblasts. Expand
Natural ceramide is unable to escape the lysosome, in contrast to a fluorescent analogue
TLDR
Findings strongly suggest that, in contrast to fluorescent derivatives, endogenous long‐chain ceramide is unable to exit from lysosomes, therefore making the lysOSomal ceramide unlikely to be a biomodulatory molecule. Expand
Saposins (sap) A and C activate the degradation of galactosylceramide in living cells
TLDR
The findings support the hypothesis, which was deduced originally from in vitro experiments, that saposins A and C are the in vivo activators of galactosylceramide degradation, and suggest that the presence of only saposin A allows galactocerebrosidase‐deficient fibroblast breakdown to proceed at a normal rate in fibroblasts. Expand
...
1
2
3
4
5
...