Category: PMM2-CDG

PMM2-CDG preprint figures – part 2

PMM2-CDG preprint figures – part 2

This is a continuation of a previous post, which covered Figures 1 – 4 of Perlara’s preprint on bioRxiv, describing our work in modeling PMM2 patient alleles. This work is currently under review at the Genetics Society of America’s peer-reviewed...
PMM2-CDG preprint figures – part 1

PMM2-CDG preprint figures – part 1

Last September, we submitted Perlara’s second preprint to bioRxiv describing our yeast models of PMM2 deficiency. This work is currently under review at the Genetics Society of America’s peer-reviewed journal G3. Below is the description of the figures from the...
New PMM2-CDG preprint

New PMM2-CDG preprint

Last week, we posted a preprint describing new yeast models of Phosphomannomutase 2 Deficiency, or PMM2-CDG, the most common congenital disorder of glycosylation in the world.  This PMM2 model preprint is our second preprint on bioRxiv which, for the uninitiated, is...
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...