NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: from Disease Gene Function to Pathophysiology.
Cells（2022）
Key words
N-glycosylation,deglycosylation,congenital disorder of deglycosylation (CDDG),proteasome,mitochondrial abnormality,BMP signaling,AMPK signaling,ER-associated degradation (ERAD),rare disease,human developmental disorder
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