NGLY1 mutations cause protein aggregation in human neurons

NGLY1 mutations cause protein aggregation in human neurons

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 cells is currently not well understood. To un...

Full description

Bibliographic Details
Main Authors: Andreea Manole, Thomas Wong, Amanda Rhee, Sammy Novak, Shao-Ming Chin, Katya Tsimring, Andres Paucar, April Williams, Traci Fang Newmeyer, Simon T. Schafer, Idan Rosh, Susmita Kaushik, Rene Hoffman, Songjie Chen, Guangwen Wang, Michael Snyder, Ana Maria Cuervo, Leo Andrade, Uri Manor, Kevin Lee, Jeffrey R. Jones, Shani Stern, Maria C. Marchetto, Fred H. Gage
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Cell Reports
Subjects:
CP: Neuroscience
Online Access:http://www.sciencedirect.com/science/article/pii/S221112472301478X

Internet

http://www.sciencedirect.com/science/article/pii/S221112472301478X

Similar Items