Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy
- Submitting institution
-
University of Keele
- Unit of assessment
- 12 - Engineering
- Output identifier
- 397
- Type
- D - Journal article
- DOI
-
10.1172/JCI71318
- Title of journal
- Journal of Clinical Investigation
- Article number
- -
- First page
- 1821
- Volume
- 124
- Issue
- 4
- ISSN
- 0021-9738
- Open access status
- Out of scope for open access requirements
- Month of publication
- March
- Year of publication
- 2014
- URL
-
https://www.jci.org/articles/view/71318
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
23
- Research group(s)
-
-
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- This study between Keele, Edinburgh, Aberdeen, Dundee and Cologne (Germany) universities, demonstrated that UBA1 protein contributes to pathogenesis in spinal muscular atrophy (SMA). There is currently no cure or totally effective treatment for SMA, but this study found that a plant chemical, quercetin, counters some effects of UBA1 dysregulation. Financial support to Keele was provided by SMA UK (formally the Jennifer Trust; https://smauk.org.uk/understanding-sma). Wide media attention was received, including the BBC website, newspapers and radio interview. This highly cited work led directly to several subsequent publications, a patent application (PCT/GB2014/052117) and funding for Keele from the Newlife charity (SG/15-16/11).
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -
