2022
DOI: 10.1002/ijch.202200068
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NGLY1 Deficiency: A Rare Genetic Disorder Unlocks Therapeutic Potential for Common Diseases

Abstract: The enzyme catalysing the removal of N-linked glycans from misfolded glycoproteins in the cytosol is an evolutionary well-conserved glycanase called Peptide:N-glycanase (PNGase; NGLY1 in humans). NGLY1 hydrolyses the amide bond between an Asn and the proximal N-acetylglucosamine (GlcNAc) of the attached N-glycan, thereby converting that particular Asn to Asp. Loss of NGLY1 due to heterozygous-inactivating mutations cause a rare congenital disorder with a multisystemic clinical phenotype. Since the first case r… Show more

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