BeHeard Award 2018: Diseases of Glycosylation, Arginine Mutagenesis, & Neural Development
Type
Blog Post
Published
June 26, 2018, 1:33 p.m.
...and enable scientists to discover if known drugs can be used to treat these diseases (drug repositioning... found that low concentrations (≤3 mM) of GdnHCl can functionally rescue multiple Arg-mutant proteins ... developmental delay. Mutations in NFIA and NFIB can also cause developmental delay in patients. We have...physiological and pathological roles of human cell glycans. Accordingly, she joined efforts with the Portuguese...They result from defects in different steps in the glycan biosynthetic pathway and have a wide range of clinical...which leads to nearly 25% child mortality.
Since glycans play an essential role in almost every aspect of...NFIX gene and test whether variants of unknown significance (VUSs) that are frequently found in genetic ...