Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-015-0204-z.pdf
Reference34 articles.
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2. Liu R, van der Lei HD, Wang X, Wortham NC, Tang H, van Berkel CG, et al. Severity of vanishing white matter disease does not correlate with deficits in eIF2B activity or the integrity of eIF2B complexes. Hum Mutat. 2011;32:1036–45.
3. Pavitt GD, Proud CG. Protein synthesis and its control in neuronal cells with a focus on vanishing white matter disease. Biochem Soc Trans. 2009;37:1298–310.
4. Bugiani M, Boor I, van Kollenburg B, Postma N, Polder E, van Berkel C, et al. Defective glial maturation in vanishing white matter disease. J Neuropathol Exp Neurol. 2011;70:69–82.
5. Cabilly Y, Barbi M, Geva M, Marom L, Chetrit D, Ehrlich M, et al. Poor cerebral inflammatory response in eIF2B knock-in mice: implications for the aetiology of vanishing white matter disease. PLoS One. 2012;7:e46715.
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