Niemann-Pick disease

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

Targets

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

Ligands

No ligand related data available for Niemann-Pick disease

References

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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]