NGLY1 mutations cause protein aggregation in human neurons [PDF]
Cell Reports, 2023 Summary: 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 disability, neuropathy, and seizures. NGLY1’s activity in human neural
Sammy Weiser Novak +2 more
exaly +8 more sources
Generation and characterization of NGLY1 patient-derived midbrain organoids [PDF]
Frontiers in Cell and Developmental Biology, 2023 NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan.
Wei Zheng
exaly +6 more sources
Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants [PDF]
CellsNGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the NGLY1 gene. It manifests as global developmental delay, hypo- or alacrima, hypotonia, and a primarily hyperkinetic movement disorder.
Antje Banning +6 more
doaj +5 more sources
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry [PDF]
Orphanet Journal of Rare Diseases, 2022 Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported
Caroline R. Stanclift +8 more
doaj +4 more sources
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency [PDF]
eLife, 2020 N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears.
Dana M Talsness +11 more
doaj +6 more sources
Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction [PDF]
Autophagy Reports, 2023 The cytosolic enzyme NGLY1 (N-glycanase 1) is a central mediator of glycoprotein catabolism. The enzyme acts to cleave N-linked glycans from modified substrate asparagine residues prior to degradation of misfolded proteins by the proteasome, playing a ...
Holger B. R. Kramer, Sarah Ann Allman
doaj +5 more sources
Tofacitinib improves motor symptoms in parkinsonism associated with a heterozygous NGLY1 variant and autoimmune disease [PDF]
European Journal of Case Reports in Internal MedicineIntroduction: Levodopa-refractory parkinsonism poses a significant diagnostic and therapeutic challenge. Variants in N-glycanase 1 (NGLY1), a key gene in proteostasis, have been associated with movement disorders, and the Janus kinase/signal transducer ...
Nuria Reina-Llompart +3 more
doaj +5 more sources
Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation [PDF]
eLife, 2020 During endoplasmic reticulum-associated degradation (ERAD), the cytoplasmic enzyme N-glycanase 1 (NGLY1) is proposed to remove N-glycans from misfolded N-glycoproteins after their retrotranslocation from the ER to the cytosol. We previously reported that
Antonio Galeone +13 more
doaj +3 more sources
Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats [PDF]
Orphanet Journal of Rare DiseasesBackground N-glycanase 1 (NGLY1) Deficiency is an ultra-rare autosomal recessive disorder of deglycosylation caused by loss-of-function mutations in the NGLY1 gene. Patients present with developmental delay, intellectual disability, hyperkinetic movement
Lei Zhu +3 more
doaj +2 more sources
A Natural Compound Containing a Disaccharide Structure of Glucose and Rhamnose Identified as Potential N-Glycanase 1 (NGLY1) Inhibitors [PDF]
Molecules, 2023 N-glycanase 1 (NGLY1) is an essential enzyme involved in the deglycosylation of misfolded glycoproteins through the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which could hydrolyze N-glycan from N-glycoprotein or N-glycopeptide in ...
Ruijie Liu +12 more
doaj +2 more sources