by Ethan Perlstein | Feb 13, 2018 | NGLY1 |
On the first day of the new year, we submitted a new NGLY1 model preprint titled “Defects in the neuroendocrine axis cause global developmental delay in a Drosophila model of NGLY1 Deficiency.” Follow on Twitter. Here I will explain in plain English what the NGLY1...
by Joshua Mast | Jan 22, 2018 | Niemann-Pick Type A |
A few months ago, Taryn Sumabat blogged about development of a fly model of a Niemann-Pick Type A Disease. Here I’ll remind you of the progress she described, and update you on our more recent work. If you remember, the two main objectives for this phase of our NPA...
by Ethan Perlstein | Jan 19, 2018 | NGLY1 |
Earlier this week I was alerted on Twitter (where else?) to a new NGLY1 paper from Dr. Clement Chow’s lab at the University of Utah titled: “Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches,”...
by Ethan Perlstein | Sep 21, 2017 | Niemann-Pick Type A |
By Taryn Sumabat This summer at Perlara, we ramped up our efforts to develop a Drosophila model of Niemann-Pick Type A (NPA). NPA is a rare lysosomal storage disease caused by mutations in the gene Smpd1, which encodes an enzyme called acid sphingomyelinase (ASM)....
