by Ethan Perlstein | Jul 21, 2016 | Blogposts, Science |
Last month I traveled to Tucson for my third consecutive Ara Parseghian Medical Research Foundation meeting for Niemann-Pick Type C/NPC. In 2014 at my first APMRF meeting, which was hosted in South Bend at Notre Dame University, I was a newcomer to the NPC community...
![Clinical relevance of a Drosophila model of Niemann-Pick C]()
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...
by Ethan Perlstein | Apr 10, 2016 | Blogposts, Science |
Five months ago we introduced PERL101, one of our lead compounds for Niemann-Pick Type C (NPC) disease, in Part One. Here in Part Two we pick up the thread. On this journey we’ve progressed from nematodes to patient cells to mice with an unoptimized primary...
by Ethan Perlstein | Nov 15, 2015 | Perlara science |
PERL101 is one of our lead compounds for Niemann-Pick C. We discovered it in a whole animal screen for small molecules that suppress the delayed onset of adulthood in NPC mutant nematode larvae. The path from primary screening hit to mouse validation studies usually...
by Nina DiPrimio | Jul 29, 2015 | Science |
For this post we are going to take a slight detour and talk about something related to Niemann-Pick C, filovirus infection. I am personally interested in the topic because of my love of viruses – plug for the highly informative TWiV (This Week in Virology)...
