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NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain.

Haiwei Zhang1,2, Haipeng Xue1,2, Yu-Chieh Wang3,4

  • 1Center for Translational Science, Florida International University, 11350 SW Village Pkwy, Port St. Lucie, FL 34987, USA.

International Journal of Molecular Sciences
|October 16, 2025
PubMed
Summary

N-glycanase 1 (NGLY1) deficiency causes a rare neurodevelopmental disorder. This review covers NGLY1

Keywords:
NGLY1 deficiencydisease modelingiPSCsproteostasisrare genetic disorders

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Area of Science:

  • Biochemistry
  • Neuroscience
  • Genetics

Background:

  • N-glycanase 1 (NGLY1) is a key enzyme in protein quality control, removing N-linked glycans from misfolded glycoproteins.
  • NGLY1 is crucial for the endoplasmic reticulum-associated degradation (ERAD) pathway in mammalian cells.
  • NGLY1 deficiency is a rare autosomal recessive disorder with severe neurological manifestations.

Purpose of the Study:

  • To review recent advances in understanding the neural functions of NGLY1.
  • To explore the neuropathological phenotypes associated with NGLY1 deficiency.
  • To discuss molecular mechanisms and therapeutic strategies for NGLY1 deficiency.

Main Methods:

  • Literature review of recent research on NGLY1.
  • Analysis of molecular basis of NGLY1 deficiency in the CNS.
  • Examination of insights from animal and induced pluripotent stem cell (iPSC)-based models.

Main Results:

  • NGLY1 plays a significant role in neuronal development and function.
  • NGLY1 deficiency leads to diverse central nervous system (CNS) pathologies.
  • Animal and iPSC models provide valuable insights into disease mechanisms.

Conclusions:

  • Understanding NGLY1's neural functions is critical for diagnosing and treating NGLY1 deficiency.
  • Emerging gene therapy approaches show promise for restoring NGLY1 activity and improving neurological outcomes.
  • Further research is needed to fully elucidate NGLY1's role in the CNS and develop effective treatments.