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Human Cell Lines with NGLY1 Mutations for the Study of NGLY1 Deficiency and Therapeutic Development

Congenital disorders of glycosylation (CDGs) are a group of inborn errors characterized by abnormalities in the process of glycosylation of biomolecules. Although more than 100 different CDGs have been reported, only one has been thoroughly described, namely NGLY1 deficiency or NGLY1-CDG. NGLY1 encodes N-glycanase 1, an enzyme involved in the cytosolic...

Published: 7/25/2024 | Inventor(s): William Gahl, May Malicdan, Lynne Wolfe

Keywords(s): Cell, Human, Lines, Mutations, NGL, VEXXXX, WIXXXX, Y1

Category(s): Application > Research Materials, TherapeuticArea > Neurology