Loss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathway.
Niemann-Pick Type C (NPC) disease is a lysosomal storage disorder characterized by accumulation of unesterified cholesterol and other lipids in the endolysosomal system. NPC disease results from a defect in either of two distinct cholesterol-binding proteins: a transmembrane protein, NPC1, and a sma...
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| Auteurs principaux: | , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2011
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| Accès en ligne: | https://doaj.org/article/64940741306b418eb7ca797b1e242985 |
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