Tag: Disease model

An update on PMM2-CDG yeast models

An update on PMM2-CDG yeast models

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...
59th Drosophila Research Conference Recap

59th Drosophila Research Conference Recap

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...
Developing an NGLY1 worm screen

Developing an NGLY1 worm screen

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...
New NGLY1 preprint

New NGLY1 preprint

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...
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