by Tom Hartl | Jul 15, 2015 | Science |
Niemann-Pick C (NPC) is a tragic neurodegenerative disease that is often referred to as childhood Alzheimer’s disease. 95% of patients with NPC carry mutations in the npc1 gene, which codes for the Npc1 protein. Npc1 resides in lysosomes and is necessary for...
by Nina DiPrimio | Apr 7, 2015 | Science |
For those who have read our posts before and follow us on Twitter, you know we are using various model organisms such as fly, yeast and worm to discover novel therapeutics for a subset of rare genetic diseases. But once we find those potential drug candidates, how do...
by Sangeetha Iyer | Mar 10, 2015 | Science |
It’s soon going to be one year since we started screening for drug candidates that slow or reverse the progress of Niemann-Pick C disease in simple animal models. The last six months here at the Perlstein Lab have been especially busy. We are now knee deep into the...
by Tom Hartl | Feb 24, 2015 | Science |
We are currently carrying out screens to find small molecules that could one day become a Niemann-Pick Type C (NPC) therapy. Patients with NPC carry mutant, or defective, copies of the npc1 gene. Like many human disease genes, the npc1 gene also exists in fruit flies....
by Kiran Singh | Jan 23, 2015 | Science |
To cap off our Niemann-Pick C disease blog series — here are parts 1, 2, and 3 — we’ll take a closer look at the two ends of the NPC1 protein, and the roles they play in shaping how NPC1 proteins are transported from sites of production to sites of action...
