From sheep to mice to cells: tools for the study of the sphingolipidoses.

[fabry disease]

The sphingolipidoses are a group of inherited lysosomal storage diseases in which sphingolipids accumulate due to the defective activity of one or other enzymes involved in their degradation . For most of the sphingolipidoses , little is known about the molecular mechanisms that lead to disease , which has negatively impacted attempts to develop therapies for these devastating human diseases . Use of both genetically-modified animals , ranging from mice to larger mammals , and of novel cell culture systems , is of utmost importance in delineating the molecular mechanisms that cause pathophysiology , and in providing tools that enable testing the efficacy of new therapies . In this review , we discuss eight sphingolipidoses , namely Gaucher disease , Fabry disease , metachromatic leukodystrophy , Krabbe disease , Niemann-Pick diseases A and B , Farber disease , GM 1 gangliosidoses , and GM 2 gangliosidoses , and describe the tools that are currently available for their study . This article is part of a Special Issue entitled Tools to study lipid functions .

Diseases
Validation

Diseases presenting "the defective activity of one or other enzymes involved in their degradation" symptom

fabry disease

krabbe disease

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