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...
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...
Modeling GNAO1 in Yeast

Modeling GNAO1 in Yeast

As part of Perlara’s collaboration with the Undiagnosed Disease Network (UDN) and Harvard Medical School on the GNAO1 PerlQuest – which our Director of R&D, Nina DiPrimio, introduced in a previous post – I have been working with the yeast team headed...
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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