by Jessica Lao | May 8, 2018 | PMM2-CDG |
Drug repurposing screen in haploid PMM2-CDG yeast models During Stage 1 of our PerlQuest partnership with Maggie’s Cure, we generated haploid PMM2-CDG yeast models of three pathogenic variants: F119L, R141H, and V231M. We expressed these variants in the yeast...
by Joshua Mast | Apr 30, 2018 | Science |
My colleague, Tamy Portillo Rodriguez, and I attended the 59th Annual Drosophila Research Conference – a fantastic meeting of scientists exploring many different fields of biology using the fly – in Philadelphia earlier this month. The conference (in some...
by Hillary Tsang | Mar 22, 2018 | NGLY1 |
In 2016, Perlara and Grace Science Foundation launched a PerlQuest for NGLY1 Deficiency (also known as NGLY1-CDDG). As a part of this collaboration, we have embarked on developing an NGLY1 worm screen. This post will detail the worm team’s latest progress toward...
by Sangeetha Iyer | Feb 20, 2018 | PMM2-CDG |
Perlara and Maggie’s Cure have started a PerlQuest for a glycosylation disorder called PMM-2 deficiency disease – one of the most common congenital disorders of glycosylation. Over the past year at Perlara, we have modeled the pmm-2 deficiency disorder in yeast,...
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...