Science, Maths & Technology
Researching rare disorders: NGLY-1, the first disorder of deglycosylation
...research focuses on protein aggregation when this deglycosylation is impaired, and how the cell copes with this aggregated material. NGLY1 is the first and so far, only disorder of deglycosylation discovered. N-glycanase is active in all cells in the body and the symptoms caused by its loss can affect the whole body. Typical symptoms include difficulty in walking and...