Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.
Niemann-Pick disease type C is a complex lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes that is characterized at the cellular level by the storage of multiple lipids, defective lysosomal calcium homeostasis and unique trafficking defects. We review the potential role...
| Main Authors: | , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2010
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