Tag: PMM2-CDG

Developing High Throughput Enzymatic Assays

Developing High Throughput Enzymatic Assays

At Perlara, we work to find therapeutics for rare genetic diseases. We develop and use immunoassays, phase contrast imaging, as well as enzymatic assays, in order to screen thousands of compounds and obtain hits from cell readouts to complement our model organism...
CE Neuro 2018 Conference Recap

CE Neuro 2018 Conference Recap

Perlara’s worm team recently attended two C. elegans neuroscience conferences – CE Neuro 2018 & CE Aging 2018 – both held at the University of Wisconsin, Madison. This post recaps Zach and my time at the CE Neuro 2018 conference, which focused on...
Modeling PMM2 deficiency in Drosophila

Modeling PMM2 deficiency in Drosophila

An update on the development of PMM2 Drosophila models, and our work to design high throughput drug screen for PMM2 deficiency — Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common type of congenital disorder of glycosylation resulting from a defect in...
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...
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