Journal of neuromuscular diseases
Gne deletion in adult mice can cause thrombocytopenia, anemia, myopathy, bleeding, and death.
Patricia Lam, Deborah A Zygmunt, Macey Bennett, Anna Ashbrook, Jessica Hefty, Paul T Martin
Published: 202510.1177/22143602251405918
Abstract
The GNE gene encodes the UDP-GlcNAc-2-epimerase/ManNAc kinase, a bifunctional enzyme required for the synthesis of sialic acid. The mouse Gne gene is essential for embryonic development, but humans with recessive partial loss of function GNE mutation…
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