Scientists at Sanford Burnham Prebys Medical Discovery Institute have shown that cells from children with NGLY1 deficiency—a rare disorder first described in 2012—lack sufficient water channel proteins called aquaporins. The...
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NGLY1.org is thrilled to be actively involved in this important research! Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations…
Stress and interferon signaling-mediated apoptosis contributes to pleiotropic anticancer responses induced by targeting NGLY1 (read more) Background Although NGLY1 is known as a pivotal enzyme that catalyses the deglycosylation of...
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The Coriell Institute for Medical Research is proud to announce the release of new samples representing N-glycanase deficiency, caused by a mutation on the NGLY 1 gene, also known as...
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BIOLOGY OF RARE AND NEGLECTED DISEASES NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES, BETHESDA, MD AND SURROUNDING AREA Position Description: The biology group in the Therapeutics for Rare and Neglected Disease…
SAN DIEGO, Sept. 05, 2017 (GLOBE NEWSWIRE) -- Retrophin, Inc. (NASDAQ:RTRX) today announced that it has entered into a three-way Cooperative Research and Development Agreement (CRADA) with the National Institutes...
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Recently published on Pubmed. Mitochondrial respiratory chain (RC) diseases and congenital disorders of glycosylation (CDG) share extensive clinical overlap but are considered to have distinct cellular pathophysiology. Here, we demonstrate...
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