Article
Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C.
Life science alliance - 1 Jul 2020
Colaco Alexandria, Fernández-Suárez María E, Shepherd Dawn, Gal Lihi, Bibi Chen, Chuartzman Silvia, Diot Alan, Morten Karl, Eden Emily, Porter Forbes D, Poulton Joanna, Platt Nick, Schuldiner Maya, Platt Frances M
Abstract excerpt
Niemann-Pick disease type C (NPC) is a rare lysosomal storage disease caused by mutations in either the NPC1 or NPC2 genes. Mutations in the NPC1 gene lead to the majority of clinical cases (95%); however, the function of NPC1 remains unknown. To gain further insights into the biology of NPC1, we took advantage of the homology between the human NPC1 protein and its yeast orthologue, Niemann-Pick C-related protein...
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