Mutations in the NGLY1 (N-glycanase 1) gene, encoding an evolutionarily conserved
deglycosylation enzyme, are associated with a rare congenital disorder leading to global …

Mitochondrial respiratory chain (RC) diseases and congenital disorders of glycosylation
(CDG) share extensive clinical overlap but are considered to have distinct cellular …

N-Glycanase 1 (NGLY1) is a cytosolic enzyme involved in removing N-linked glycans of
misfolded N-glycoproteins and is considered to be a component of endoplasmic reticulum …

Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1
deficiency, the only known human disease of deglycosylation. Patients present with …

Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of
deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 …

N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function
mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by …

Congenital disorders of glycosylation are genetic disorders that occur due to defects in
protein and lipid glycosylation pathways. A deficiency of N‐glycanase 1, encoded by the …

Biallelic mutations in the gene that encodes the enzyme N-glycanase 1 (NGLY1) cause a
rare disease with multi-symptomatic features including developmental delay, intellectual …

The cytoplasmic peptide: N-glycanase (Ngly1) is a de-N-glycosylating enzyme that cleaves
N-glycans from misfolded glycoproteins and is involved in endoplasmic reticulum …

NGLY1 deficiency is the first and only autosomal recessive congenital disorder of N-linked
deglycosylation (NGLY1-CDDG). To date, no patients with NGLY1 deficiency has been …