The molecular mechanisms connecting Niemann Pick C1 cholesterol transporter (NPC1) loss to Niemann-Pick Type C neuropathology remain unknown. Here, the authors demonstrate that loss of NPC1 function alters the nanoscale distribution and function of ion channels to promote abnormal calcium entry, mitochondrial dysfunction, and neurotoxicity.
- Maria Casas
- Karl D. Murray
- Eamonn J. Dickson
