Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.D187N
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GNE

NM_005476.7:p.D187N

Associated Papers

The ROK kinase N-acetylglucosamine kinase uses a sequential random enzyme mechanism with successive conformational changes upon each substrate binding.

Roy S et al.

The Journal of Biological Chemistry, 2023

Sporadic inclusion-body myositis: A degenerative muscle disease associated with aging, impaired muscle protein homeostasis and abnormal mitophagy.

Askanas V et al.

Biochimica Et Biophysica Acta, 2015

Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV et al.

Human Mutation, 2014

Sporadic inclusion-body myositis: conformational multifactorial ageing-related degenerative muscle disease associated with proteasomal and lysosomal inhibition, endoplasmic reticulum stress, and accumulation of amyloid-β42 oligomers and phosphorylated tau.

Askanas V et al.

Presse Medicale (paris, France : 1983), 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."