Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy

Autor: Hunter, Gillian, Powis, Rachael A., Jones, Ross A., Groen, Ewout J.N., Shorrock, Hannah K., Lane, Fiona M., Zheng, Yinan, Sherman, Diane L., Brophy, Peter J., Gillingwater, Thomas H.

Publikováno v: Human Molecular Genetics
Hunter, G, Powis, R A, Jones, R A, Groen, E J N, Shorrock, H K, Lane, F M, Zheng, Y, Sherman, D L, Brophy, P J & Gillingwater, T H 2016, ' Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy ', Human Molecular Genetics, vol. 25, no. 13, pp. 2853–2861 . https://doi.org/10.1093/hmg/ddw141

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity. Here, we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::988c3a0a62e0e19ef2f96d5a93f9dc0b
http://europepmc.org/articles/PMC5181642

Targeting the ubiquitin proteasome system to develop novel therapeutic approaches for spinal muscular atrophy

Autor: Powis, Rachael Anita

Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder characterised by lower motor neuron degeneration and paralysis. Although it is a leading genetic cause of childhood death no approved treatment options currently exist. As SMA i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______463::dab8e1233e4f6232c6e3bd5e1c659bf1
http://hdl.handle.net/1842/25854

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Corrigendum: Survival Motor Neuron (SMN) protein is required for normal mouse liver development.

Autor: Szunyogova, Eva, Zhou, Haiyan, Maxwell, Gillian K., Powis, Rachael A., Muntoni, Francesco, Gillingwater, Thomas H., Parson, Simon H.

Publikováno v: Scientific Reports; 11/11/2016, p35898, 1p