NGLY1 browser

NGLY1 browser provides access to gene and protein expression data from patient-derived cell lines to characterize molecular changes in N-Glycanase 1 (NGLY1) deficiency.

Key Features:

• Extensive dataset: Bulk gene and protein expression data from 66 cell lines across four cell types derived from 14 NGLY1-deficient patients and 17 parent controls.
• Integrated omics: Paired RNA-sequencing and mass spectrometry datasets enable analysis of transcriptomes and proteomes.
• Genotype-specific protein expression: NGLY1 protein is up to 9.5-fold downregulated in patients versus controls and remains detectable in all patient-derived lymphoblastoid cell lines.
• Nrf1 and proteasome effects: Data reveal consistent downregulation of proteasomal genes consistent with NGLY1 regulation of the transcription factor Nrf1.
• Ribosomal mRNA processing: Multiple cell types show upregulation of genes involved in ribosomal mRNA processing.
• Cell type-specific pathway changes: Lymphoblastoid cells show downregulation of glutathione synthesis-related proteins, including GCLC and GCLM.

Scientific Applications:

• Genotype–phenotype correlation: Comparative transcriptomic and proteomic analyses support investigation of genotype-dependent molecular effects in NGLY1 deficiency.
• Therapeutic target identification: Differential expression of proteasomal and glutathione synthesis components can guide identification of candidate therapeutic targets.
• Mechanistic studies: Integrated omics data enable exploration of Nrf1-related proteasome regulation and ribosomal mRNA processing alterations across cell types.

Methodology:

RNA-sequencing for transcriptome analysis and mass spectrometry for proteomic profiling.