NGLY1 is caused by mutations in the NGLY1 gene, coding for an N-glycanase. It is a rare hereditary disease with various symptoms such as growth retardation, dysgenesis, movement disorders and epilepsy. By combining iPS cell technology, the drug discovery platform of Takeda Pharmaceutical and basic research at RIKEN, a treatment method for NGLY1 deficiency is to be established. According to RIKEN, endo-β-N-acetylglucosaminidase (ENGase, an enzyme involved in the metabolism of glycoprotein sugar chains, may be a therapeutic target molecule for NGLY1 deficiency. The program will be supported by California’s Grace Science Foundation.
RIKEN news release, March 31, 2017