Science, Maths & Technology
Researching rare disorders: NGLY-1, the first disorder of deglycosylation
...Parkinson’s and Huntington’s are also caused by a build-up of misfolded proteins in the brain. What is NGLY1 deficiency? NGLY1 deficiency is a rare genetic disorder caused by mutations in the N-glycanase gene. This means that patients with this mutation produce little to no N-glycanase protein. N-glycanase is involved in the recycling of proteins and without this old...