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....
![Yeast model of Mendelian mitochondrial diseases]()
by Nina DiPrimio | Feb 1, 2015 | Science |
Using yeast as a model organism to study human disease is not a new concept. Yeast are useful for this purpose for many reasons as discussed in a previous post, but potentially of most importance is that yeast cell biology is similar to that of mammalian cells, and...
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...
by Sangeetha Iyer | Nov 18, 2014 | Science |
Niemann-Pick C disease is an inherited autosomal recessive disorder typified by a cholesterol accumulation defect. This manifests as a progressive and eventually fatal neurodegenerative disease. The disease arises due to mutations in the Niemann-Pick C (NPC) gene,...
by Nina DiPrimio | Oct 17, 2014 | Science |
If you go to clinicaltrial.gov, one of the only websites for up-to-date clinical trial information, and search for Niemann-Pick Type C (NP-C), you will notice a small set of trials in various stages of development. Some of the trials are focused on better...
