A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
作者信息
Gami Priya, Murray Christina, Schottlaender Lucia, Bettencourt Conceição, De Pablo Fernandez Eduardo, Mudanohwo Ese, Mizielinska Sarah, Polke James M, Holton Janice L, Isaacs Adrian M, Houlden Henry, Revesz Tamas, Lashley Tammaryn
机构信息
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.
出版信息
Acta Neuropathol. 2015 Oct;130(4):599-601. doi: 10.1007/s00401-015-1473-5. Epub 2015 Sep 7.
PMID:26347457
Abstract
摘要
Zotero 插件