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Article

Effect of GNE Mutations on Cytoskeletal Network Proteins: Potential Gateway to Understand Pathomechanism of GNEM.

Neuromolecular medicine - 1 Dec 2022

Yadav Rashmi, Oswalia Jyoti, Ghosh Anu, Arya Ranjana

Abstract excerpt

GNE myopathy is an inherited neuromuscular disorder caused by mutations in GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetyl mannosamine kinase) gene catalyzing the sialic acid biosynthesis pathway. The characteristic features include muscle weakness in upper and lower extremities, skeletal muscle wasting, and rimmed vacuole formation. More than 200 GNE mutations in either epimerase or kinase domain have been...

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PMID: 35503500
DOI: 10.1007/s12017-022-08711-4

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