The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-01510-z.pdf
Reference52 articles.
1. Huntington’s Disease Collaborative Research Group. A Novel Gene Containing a Trinucleotide Repeat That Is Expanded and Unstable on Huntingtons-Disease Chromosomes. Cell 72, 971–983, doi: 10.1016/0092-8674(93)90585-E (1993).
2. Bates, G. P. et al. Huntington disease. Nature reviews. Disease primers 1, 15005, doi: 10.1038/nrdp.2015.5 (2015).
3. Pouladi, M. A., Morton, A. J. & Hayden, M. R. Choosing an animal model for the study of Huntington’s disease. Nature reviews. Neuroscience 14, 708–721, doi: 10.1038/nrn3570 (2013).
4. Sathasivam, K. et al. Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease. Proc Natl Acad Sci USA 110, 2366–2370, doi: 10.1073/pnas.1221891110 (2013).
5. Mangiarini, L. et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87, 493–506, doi: 10.1016/S0092-8674(00)81369-0 (1996).
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