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Article

GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.

Molecular neurobiology - 1 Jul 2016

Singh Reema, Arya Ranjana

Abstract excerpt

In a number of genetic disorders such as GNE myopathy, it is not clear how mutations in target genes result in disease phenotype. GNE myopathy is a progressive neuro-degenerative disorder associated with homozygous or compound heterozygous missense mutations in either epimerase or kinase domain of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE). This bifunctional enzyme catalyses the rate limiting step in sialic acid...

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Identifiers

PMID: 25976366
DOI: 10.1007/s12035-015-9191-5

Genes

GNE

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