Fuller, HR, Gillingwater, TH and Wishart, TM (2016) Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy. Neuromuscular Disorders, 26 (9). pp. 560-569. ISSN 1873-2364

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The neuromuscular disease spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality, resulting from low levels of full-length survival motor neuron (SMN) protein. Despite having a good understanding of the underlying genetics of SMA, the molecular pathways downstream of SMN that regulate disease pathogenesis remain unclear. The identification of molecular perturbations downstream of SMN is required in order to fully understand the fundamental biological role(s) for SMN in cells and tissues of the body, as well as to develop a range of therapeutic targets for developing novel treatments for SMA. Recent developments in proteomic screening technologies have facilitated proteome-wide investigations of a range of SMA models and tissues, generating novel insights into disease mechanisms by highlighting conserved changes in a range of molecular pathways. Comparative analysis of distinct proteomic datasets reveals conserved changes in pathways converging on GAP43, GAPDH, NCAM, UBA1, LMNA, ANXA2 and COL6A3. Proteomic studies therefore represent a leading tool with which to dissect the molecular mechanisms of disease pathogenesis in SMA, serving to identify potentially attractive targets for the development of novel therapies.

Item Type: Article
Additional Information: This is the accepted author manuscript (AAM). The final published version (version of record) is available online via Elsevier at http://dx.doi.org/10.1016/j.nmd.2016.06.004 Please refer to any applicable terms of use of the publisher.
Uncontrolled Keywords: Spinal muscular atrophy, SMA, SMN, UBA1, Proteomics
Subjects: R Medicine > R Medicine (General)
Divisions: Faculty of Medicine and Health Sciences > Institute for Science and Technology in Medicine
Depositing User: Symplectic
Date Deposited: 01 Jun 2016 13:14
Last Modified: 31 Mar 2021 08:54
URI: https://eprints.keele.ac.uk/id/eprint/1800

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