Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
- Submitting institution
-
University of Keele
- Unit of assessment
- 12 - Engineering
- Output identifier
- 379
- Type
- D - Journal article
- DOI
-
10.1002/acn3.50855
- Title of journal
- Annals of Clinical and Translational Neurology
- Article number
- -
- First page
- 1519
- Volume
- 6
- Issue
- 8
- ISSN
- 2328-9503
- Open access status
- Compliant
- Month of publication
- July
- Year of publication
- 2019
- URL
-
https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.50855
- 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
-
22
- Research group(s)
-
-
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- This study demonstrated canonical fatty acid metabolism defects in SMA mice and patients and was highlighted on the SMA News Today website (https://smanewstoday.com/news-posts/2019/08/26/lipid-metabolism-poor-in-sma-with-link-to-liver-heart-disease-study-says/). This formed a key component of the PhD awarded to Dr Marc-Olivier Deguise (supported by a Banting and Best CIHR Doctoral Research Award), currently a pediatric resident physician at CHEO (Ottawa, Canada). The study was funded by Muscular Dystrophy Association (575466 & 417757), Canadian Institutes of Health Research (PJT‐156379), E‐Rare‐2 (ERL‐138414), Fondazione Telethon (GUP15014), and National Institutes of Health (DK59637). Follow-on funding from Midlands Innovation TALENT was obtained to pursue further investigations in SMA patients.
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -
