Tag: Disease model

Conducting a GNAO1 yeast screen

Conducting a GNAO1 yeast screen

As discussed in a previous post, we are currently working on a GNAO1 PerlQuest collaboration with the Undiagnosed Diseases Network (UDN) and Harvard Medical School. GNAO1 is a gene that encodes for the alpha subunit of a G protein, and mutations in this gene lead a...
Modeling Pompe disease in flies

Modeling Pompe disease in flies

Here at Perlara we are excited to announce our probe into Pompe disease which, along with Cori disease, comprise our glycogen storage disease PerlQuest. For this project we will be collaborating with the Warren Center at the University of Notre Dame. Our goal is to...
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...
2018 Yeast Genetics Meeting recap

2018 Yeast Genetics Meeting recap

The 2018 Yeast Genetics Meeting (#Yeast18) was held in August at Stanford University in Palo Alto. I learned about the latest developments in research and advances in tools and technology, reconnected with former colleagues, and established new connections and...