Functional prediction of the potential NGLY1 mutations associated with rare disease CDG

Genetic diseases are currently diagnosed by functional mutations. However, only some mutations are associated with disease. It is necessary to establish a quick prediction model for clinical screening. Pathogenic mutations in NGLY1 cause a rare autosomal recessive disease known as congenital disorde...

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Bibliographic Details

Published in:	Heliyon
Main Authors:	Shuying Yuan, Yanwen Chen, Lin Zou, Xinrong Lu, Ruijie Liu, Shaoxing Zhang, Yuxin Zhang, Cuiying Chen, Dongqing Cheng, Li Chen, Guiqin Sun
Format:	Article
Language:	English
Published:	Elsevier 2024-04-01
Subjects:	Deglycosylation Enzymatic activity Gain of function mutation PNGase Rare disease
Online Access:	http://www.sciencedirect.com/science/article/pii/S2405844024048187