Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD-Reference-Cited by-同舟云学术

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Published:2016-02-25 Issue:1 Volume:4 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Niblock Michael,Smith Bradley N.,Lee Youn-Bok,Sardone Valentina,Topp Simon,Troakes Claire,Al-Sarraj Safa,Leblond Claire S.,Dion Patrick A.,Rouleau Guy A.,Shaw Christopher E.,Gallo Jean-Marc

Funder

Wellcome Trust

Motor Neurone Disease Association

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40478-016-0289-4

Reference60 articles.

1. Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56. doi: 10.1016/j.neuron.2011.09.011 .

2. Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68. doi: 10.1016/j.neuron.2011.09.010 .

3. Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, et al. The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder. Eur J Hum Genet. 2013;21:102–8. doi: 10.1038/ejhg.2012.98 .

4. Cruts M, Gijselinck I, Van Langenhove T, van der Zee J, Van Broeckhoven C. Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum. Trends Neurosci. 2013;36:450–9. doi: 10.1016/j.tins.2013.04.010 .

5. Zu T, Liu Y, Banez-Coronel M, Reid T, Pletnikova O, Lewis J, et al. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc Natl Acad Sci U S A. 2013;110:E4968–77. doi: 10.1073/pnas.1315438110 .

Cited by 47 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. AAGGG repeat expansions trigger RFC1 -independent synaptic dysregulation in human CANVAS neurons;Science Advances;2024-09-06

2. Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision;Proceedings of the National Academy of Sciences;2024-04-15

3. PABPC1 mediates degradation of C9orf72-FTLD/ALS GGGGCC repeat RNA;iScience;2024-03

4. AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons;2023-12-14

5. Aberrant splicing exonizesC9ORF72repeat expansion in ALS/FTD;2023-11-14