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Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells.

Rebecca Hetz1, Carlo Magaway1, Jaylene Everett1

  • 1Department of Biochemistry, Lake Erie College of Osteopathic Medicine, Erie, PA, USA.

Biochemical and Biophysical Research Communications
|October 9, 2022
PubMed
Summary

N-glycanase 1 (NGLY1) deficiency causes protein buildup and elevates CCN2 and TGF-β signaling. This may link to liver fibrosis in patients with this rare genetic disorder.

Keywords:
CCN2FibrosisNGLY1ProteomicsTGF-β signaling

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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • N-glycanase 1 (NGLY1) removes N-linked glycans from proteins.
  • NGLY1 deficiency is a rare genetic disorder with diverse clinical features.
  • Previous research suggested links to proteostasis, mitochondrial, immune, and transport defects.

Purpose of the Study:

  • Investigate molecular mechanisms of NGLY1 deficiency.
  • Identify molecular alterations in NGLY1-deficient cells.
  • Explore potential links to fibrosis in NGLY1 patients.

Main Methods:

  • Analyzed NGLY1-deficient human and mouse cells.
  • Utilized global quantitative proteomics and isobaric labeling.
  • Performed biological validation and functional assays for CCN2 and TGF-β signaling.

Main Results:

  • Demonstrated abnormal accumulation of ERAD substrates in NGLY1-deficient cells.
  • Identified elevated levels of endogenous proteins, including CCN2.
  • Confirmed increased CCN2 and over-stimulated TGF-β signaling.

Conclusions:

  • NGLY1 deficiency leads to ERAD substrate accumulation and altered protein levels.
  • Elevated CCN2 and TGF-β signaling are key molecular consequences.
  • Suggests a potential link between these molecular changes and liver fibrosis in NGLY1 patients.