BeHeard Award 2018: Diseases of Glycosylation, Arginine Mutagenesis, & Neural Development
Type
Blog Post
...diseases.
Spontaneous mutations are a major cause of rare diseases. Spontaneous mutations that change protein...biosynthetic pathway and have a wide range of clinical manifestations. PMM2-CDG is the most frequent CDG type characterized...deficient phosphomannomutase (PMM) activity due to mutations in the PMM2 gene. Videira’s group recently reviewed...27393411.
Michael McMurray: Rescuing arginine mutations in rare disease with guanidine
Michael McMurray...different Arg-mutant enzymes could be rescued by supplementation with guanidine hydrochloride (GdnHCl). Rescue...cells for testing in the lab will be greatly facilitated by CRISPR reagents and other specific gene sequences...suffering from rare diseases arising from Arg mutations.
References:
Baldwin, Enoch, et al. "Generation...