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 |
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2010
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| _version_ | 1797057060845649920 |
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| author | Lloyd-Evans, E Platt, F |
| author_facet | Lloyd-Evans, E Platt, F |
| author_sort | Lloyd-Evans, E |
| collection | OXFORD |
| description | 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 of each of the individual storage lipids in initiating the pathogenic cascade and propose a model of NPC1 and NPC2 function based on the current knowledge. |
| first_indexed | 2024-03-06T19:30:56Z |
| format | Journal article |
| id | oxford-uuid:1d74003a-97e0-4981-a489-160ede5d7e28 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T19:30:56Z |
| publishDate | 2010 |
| record_format | dspace |
| spelling | oxford-uuid:1d74003a-97e0-4981-a489-160ede5d7e282022-03-26T11:10:50ZLipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:1d74003a-97e0-4981-a489-160ede5d7e28EnglishSymplectic Elements at Oxford2010Lloyd-Evans, EPlatt, FNiemann-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 of each of the individual storage lipids in initiating the pathogenic cascade and propose a model of NPC1 and NPC2 function based on the current knowledge. |
| spellingShingle | Lloyd-Evans, E Platt, F Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. |
| title | Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. |
| title_full | Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. |
| title_fullStr | Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. |
| title_full_unstemmed | Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. |
| title_short | Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. |
| title_sort | lipids on trial the search for the offending metabolite in niemann pick type c disease |
| work_keys_str_mv | AT lloydevanse lipidsontrialthesearchfortheoffendingmetaboliteinniemannpicktypecdisease AT plattf lipidsontrialthesearchfortheoffendingmetaboliteinniemannpicktypecdisease |