Edinburgh Research Explorer

Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy

Research output: Contribution to journalLiterature review

Related Edinburgh Organisations

Open Access permissions



  • Download as Adobe PDF

    Accepted author manuscript, 564 KB, PDF document

    Licence: Creative Commons: Attribution (CC-BY)

Original languageEnglish
Pages (from-to)560-569
JournalNeuromuscular Disorders
Issue number9
Early online date7 Jun 2016
Publication statusPublished - Sep 2016


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.

    Research areas

  • Spinal muscular atrophy, SMA, SMN, UBA1, proteomics

Download statistics

No data available

ID: 25500439