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Metachromatic leukodystrophy: consequences of sulphatide accumulation

Gieselmann, V. and Franken, S. and Klein, D. and Mansson, J. E. and Sandhoff, R. and Lüllmann Rauch, R. and Hartmann, D. and Saravanan, V. P. M. and De Deyn, P. P. and D'Hooge, R. and Van Der Linden, A. M. and Schaeren-Wiemers, N.. (2003) Metachromatic leukodystrophy: consequences of sulphatide accumulation. Acta paediatrica. Supplement, Vol. 92, H. 443 , S. 74-79; discussion 45.

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Official URL: http://edoc.unibas.ch/dok/A5838866

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Abstract

Metachromatic leukodystrophy is a lysosomal lipid storage disorder. It is caused by mutations in the gene for arylsulphatase A, an enzyme involved in the degradation of the sphingolipid 3'-O-sulphogalactosylceramide (sulphatide). This membrane lipid can be found in various cell types, but in particularly high concentrations in the myelin of the nervous system. Patients suffer from progressive, finally lethal, demyelination due to accumulation of sulphatide. In the nervous system, lipid storage not only affects oligodendrocytes but also neurons and, in addition, leads to astrogliosis and activation of microglia. At the cellular level, lysosomal sulphatide storage also affects the lipid composition of myelin itself and has consequences for the amount and localization of particular myelin membrane-associated proteins. Here we review data, largely based on an arylsulphatase A knock-out mouse model of metachromatic leukodystrophy. CONCLUSION: The knock-out mouse model of metachromatic leukodystrophy has provided insights into the histopathological and cellular consequences of sulphatide storage.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Neurobiology (Schaeren-Wiemers)
UniBasel Contributors:Schaeren-Wiemers, Nicole
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Taylor & Francis
ISSN:0803-5253
Note:Also published in: Lysosomal diseases. - Stockholm : Taylor & Francis, 2003. - S. 74-79 -- Publication type according to Uni Basel Research Database: Journal article
Last Modified:16 Aug 2013 07:34
Deposited On:16 Aug 2013 07:32

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