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Niemann-Pick disease

Disease ID:689
Name:Niemann-Pick disease
Associated with:1 target
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Disease Ontology: DOID:14504


Role:  Sphingomyelins accumulate in lysosomes of Niemann-Pick cells; affects TRPML1 channel activity and causes lysosomal trafficking defects
References:  1


No ligand related data available for Niemann-Pick disease


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1. Shen D, Wang X, Li X, Zhang X, Yao Z, Dibble S, Dong XP, Yu T, Lieberman AP, Showalter HD et al.. (2012) Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release. Nat Commun, 3: 731. [PMID:22415822]