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ProteomicsComparative Proteomics of HepG2 Cells Reveals NGLY1 as an Important Regulator of Ferroptosis Resistance and Iron Uptake
NGLY1 deficiency is a rare genetic disorder caused by mutations in the NGLY1 gene. This disorder presents a wide range of clinical symptoms, and its severity varies among affected individuals. Previous studies have focused on understanding the influence of NGLY1 on energy metabolism, revealing dysre...
ORGANISM(S): Homo sapiens (Human) 
2025-07-18 | PXD058551 | Pride
Ferroptosis Hepg2 cells Ngly1 deficiency Iron metabolism 
GenomicsExpression signatures of NGLY1 deficiency
N-Glycanase 1 (NGLY1) deficiency is a rare and complex genetic disorder. Although recent studies have shed light on the molecular underpinnings of NGLY1 deficiency, a systematic characterization of gene and protein expression changes in patient-derived cells has been lacking. Here, we performed RNA-...
EGAS00001005573 | EGA
TranscriptomicsTranscriptome profiling of NGLY1 deficient K562 cells
The data includes a transcriptome analysis of K562 cell lines in which the gene N-glycanase 1 (NGLY1) was mutated in exon 1 and/or exon 3 to include loss of function mutations as described in Mueller and Jakob et al, 2020. The data were used in conjunction with whole proteome MS/MS experiments to sh...
ORGANISM(S): Homo sapiens 
2020-04-20 | E-MTAB-8876 | biostudies-arrayexpress
ProteomicsNGLY1 mutations cause protein aggregation in human neurons
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 cells is currently not well understood. To understand h...
ORGANISM(S): Homo sapiens (Human) 
2024-05-23 | PXD031091 | Pride
Forebrain organoids Fragmented mitochondria Heat shock proteins Protein aggregates Ngly1 deficiency Neural cells 
UnknownJF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.
Not available
S-EPMC7897899 | biostudies-literature
UnknownNGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Not available
S-EPMC9759919 | biostudies-literature
ProteomicsNGLY1 deficiency perturbs cerebral development by affecting stress tolerability and neural stem cell signaling during neurogenesis
Although NGLY1 deficiency has been discovered as a result of mutations in the NGLY1 gene, cellular and molecular mechanisms underlying the neurological abnormalities due to NGLY1 malfunction in the brain remain mostly unknown. Using human cerebral organoid (CO) models and systems biology techniques,...
ORGANISM(S): Homo sapiens (Human) 
2022-05-20 | PXD026681 | Pride
Neurodevelopment Neuroprogenitors Stress responses Ngly1 Secretory factors Congenital deglycosylation disorder Cerebral organoids Human pluripotent stem cells 
GenomicsGeneration and characterization of NGLY1 patient-derived midbrain organoids
Generation and characterization of NGLY1 patient-derived midbrain organoids
PRJNA930476 | ENA
GenomicsTranscriptome profiling of NGLY1 deficient K562 cells
Transcriptome profiling of NGLY1 deficient K562 cells
PRJEB37082 | ENA
GenomicsNGLY1 mutations cause protein aggregation in human neurons
NGLY1 mutations cause protein aggregation in human neurons
PRJNA810420 | ENA
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