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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Autores principales: | Sayali S Dixit, Michel Jadot, Istvan Sohar, David E Sleat, Ann M Stock, Peter Lobel |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2011
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Materias: | |
Acceso en línea: | https://doaj.org/article/64940741306b418eb7ca797b1e242985 |
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