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...
Fly models of NGLY1 Deficiency

Fly models of NGLY1 Deficiency

Earlier this week I was alerted on Twitter (where else?) to a new NGLY1 paper from Dr. Clement Chow’s lab at the University of Utah titled: “Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches,”...
CRISPR genome editing to make an NGLY1 fly

CRISPR genome editing to make an NGLY1 fly

N-glycanase 1 deficiency, or “NGLY1,” is a rare genetic disorder arising from mutations in the ngly1 gene.  The disease was recently diagnosed in what was a remarkable partnering of patient advocates and scientists who used DNA sequencing to trace the disease-causing...
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