by Tom Hartl | Jun 2, 2016 | Science |
Niemann-Pick type C (NPC) is a tragic childhood neurodegenerative disease. The majority of NPC cases (95%) are caused by mutations in the npc1 gene. Npc1 is a late endosomal/lysosomal (LEL) protein that is necessary for proper lipid trafficking. When Npc1 is...