Mizielinska, S;
Isaacs, AM;
(2016)
One target for amyotrophic lateral sclerosis therapy?
Science
, 353
(6300)
pp. 647-648.
10.1126/science.aah5408.
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Abstract
Repeat expansion mutations cause a range of developmental, neurodegenerative, and neuromuscular disorders. The repeat sequences generally comprise a 3– to 6–base pair repeat unit that expands above a critical threshold, leading to disease. Expanded repeats cause disease via a range of mechanisms, including loss of function of the repeat-containing protein and production of toxic repeat RNAs and proteins, making the disorders difficult to treat. In 2011, a hexanucleotide repeat expansion in the C9orf72 gene was identified as the most common cause of frontotemporal dementia and amyotrophic lateral sclerosis (termed c9FTD/ALS) (1, 2). On page 708 of this issue, Kramer et al. (3) report that targeting a single factor, Spt4, reduced production of C9orf72 repeat expansion–associated RNA and protein, and ameliorated neurodegeneration in model systems.
| Type: | Article |
|---|---|
| Title: | One target for amyotrophic lateral sclerosis therapy? |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1126/science.aah5408 |
| Publisher version: | http://dx.doi.org/10.1126/science.aah5408 |
| Language: | English |
| Additional information: | This is the author's version of the work. It is posted here by permission of the AAAS for personal use, not for redistribution. The definitive version was published in Science 353(6300), doi: 10.1126/science.aah5408. The published version of this article can be accessed via the following links: summary (http://science.sciencemag.org/cgi/content/summary/353/6300/647?ijkey=4pom1XGsF5Hqs&keytype=ref&siteid=sci), reprint (http://science.sciencemag.org/cgi/rapidpdf/353/6300/647?ijkey=4pom1XGsF5Hqs&keytype=ref&siteid=sci), and full text (http://science.sciencemag.org/cgi/content/full/353/6300/647?ijkey=4pom1XGsF5Hqs&keytype=ref&siteid=sci). |
| Keywords: | science & technology, multidisciplinary sciences, science & technology - other topics, hexanucleotide repeat, C9ORF72, transcription, expansions, FTD, ALS |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1514498 |
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