Channelopathies in fragile X syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Link
http://www.nature.com/articles/s41583-021-00445-9.pdf
Reference158 articles.
1. Penagarikano, O., Mulle, J. G. & Warren, S. T. The pathophysiology of fragile X syndrome. Annu. Rev. Genomics Hum. Genet. 8, 109–129 (2007).
2. Sitzmann, A. F., Hagelstrom, R. T., Tassone, F., Hagerman, R. J. & Butler, M. G. Rare FMR1 gene mutations causing fragile X syndrome: a review. Am. J. Med. Genet. A 176, 11–18 (2018).
3. Contractor, A., Klyachko, V. A. & Portera-Cailliau, C. Altered neuronal circuit excitability fragile X syndrome. Neuron 87, 699–715 (2015).
4. Devys, D., Lutz, Y., Rouyer, N., Bellocq, J. P. & Mandel, J. L. The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat. Genet. 4, 335–340 (1993).
5. Brager, D. H. & Johnston, D. Channelopathies and dendritic dysfunction in fragile X syndrome. Brain Res. Bull. 103, 11–17 (2014).
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