Title : Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.

Pub. Date : 2017 Jun 15

PMID : 28379564






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog (Shh) receptor, Patched, and involved in intracellular trafficking of cholesterol. Cholesterol NPC intracellular cholesterol transporter 1 Mus musculus