This is a new website for families dealing with N-glycanase deficiency.
N-glycanase deficiency is caused by errors in the NGLY1 gene. NGLY1 encodes the production of the enzyme N-glycanase, which is essential for the degradation of misfolded, N-linked glycoproteins within cells throughout the body.
N-glycanase is a highly conserved protein, meaning that it is essential across species. Even...
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NGLY1 in The New Yorker!
Open science and social media were key in the discovery and growth of the NGLY1 rare disease community. Article by Seth Mnookin.
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NGLY1 Deficiency Research
In June 2012, the Freeze Lab pioneered research into the clinical treatment of the rare disorder, N-glycanase deficiency.
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NGLY1 Families Connect
On February 28, 2014, researchers and 5 NGLY1 families from across the world met for the first ever symposium on N-glycanase deficiency.
