家族性 ALS/FTD：重复突变与 ALS/FTD。
All in the Family: Repeats and ALS/FTD.
机构信息
Center for Neurogenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Departments of Molecular Genetics and Neurology, College of Medicine, University of Florida, Gainesville, FA, USA.
Center for Neurogenetics, College of Medicine, University of Florida, Gainesville, FL, USA; Departments of Molecular Genetics and Neurology, College of Medicine, University of Florida, Gainesville, FA, USA; McKnight Brain Institute, University of Florida, Gainesville, FL, USA; Genetics Institute, University of Florida, Gainesville, FL, USA.
出版信息
Trends Neurosci. 2018 May;41(5):247-250. doi: 10.1016/j.tins.2018.03.010.
Abstract
In 2011, an intronic (GC)•(GC) expansion was shown to cause the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). This discovery linked ALS with a clinically distinct form of dementia and a larger group of microsatellite repeat diseases, and catalyzed basic and translational research.
摘要
2011 年，研究表明内含子（GC）•（GC）扩展会导致最常见的肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）。这一发现将 ALS 与一种临床上明显不同的痴呆症以及更大的微卫星重复疾病联系起来，并推动了基础和转化研究。
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本文引用的文献
1
Decoding ALS: from genes to mechanism.
Nature. 2016 Nov 10;539(7628):197-206. doi: 10.1038/nature20413.
2
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.
Neuron. 2016 May 4;90(3):521-34. doi: 10.1016/j.neuron.2016.04.005. Epub 2016 Apr 21.
3
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.
Neuron. 2016 May 4;90(3):535-50. doi: 10.1016/j.neuron.2016.04.006. Epub 2016 Apr 21.
4
Review: an update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations.
Neuropathol Appl Neurobiol. 2015 Dec;41(7):858-81. doi: 10.1111/nan.12250. Epub 2015 Jul 6.
5
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
Proc Natl Acad Sci U S A. 2013 Dec 17;110(51):E4968-77. doi: 10.1073/pnas.1315438110. Epub 2013 Nov 18.
6
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):E4530-9. doi: 10.1073/pnas.1318835110. Epub 2013 Oct 29.
7
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS.
Neuron. 2013 Feb 20;77(4):639-46. doi: 10.1016/j.neuron.2013.02.004. Epub 2013 Feb 12.
8
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
Science. 2013 Mar 15;339(6125):1335-8. doi: 10.1126/science.1232927. Epub 2013 Feb 7.
9
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Neuron. 2011 Oct 20;72(2):257-68. doi: 10.1016/j.neuron.2011.09.010. Epub 2011 Sep 21.
10
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Neuron. 2011 Oct 20;72(2):245-56. doi: 10.1016/j.neuron.2011.09.011. Epub 2011 Sep 21.
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