Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy
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- 作者：Heidi R. Fullera ; b ; h.r.fuller@keele.ac.uk" class="auth_mail" title="E-mail the corresponding author ; Thomas H. Gillingwaterc ; d ; Thomas M. Wishartd ; e ; T.M.Wishart@Roslin.ed.ac.uk" class="auth_mail" title="E-mail the corresponding author
- 关键词：Spinal muscular atrophy ; SMA ; SMN ; UBA1 ; Proteomics
- 刊名：Neuromuscular Disorders
- 出版年：2016
- 出版时间：September 2016
- 年：2016
- 卷：26
- 期：9
- 页码：560-569
- 全文大小：1346 K
文摘
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Proteomics highlights potential conserved mechanisms of pathogenesis in SMA.
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GAP43, GAPDH, UBA1 and NCAM are decreased in three separate proteomic studies of SMA.
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LMNA, ANXA2 and COL6A3 are increased in three separate proteomic studies of SMA.
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Manipulation of these proteins may modulate the severity of disease in SMA.