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Article

Generation and characterization of a novel gne Knockout Model in Zebrafish

24 Oct 2022

Abstract excerpt

GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis pathway. However, the process in which GNE mutations lead to the development of a muscle pathology is not clear yet. Cellular and mouse models for GNE Myopathy...

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PMID: 36353515
DOI: 10.3389/fcell.2022.976111

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