Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms

Missense mutations in MORC2 cause neuropathies including spinal muscular atrophy and Charcot–Marie–Tooth disease. We recently identified MORC2 as an effector of epigenetic silencing by the human silencing hub (HUSH). Here we report the biochemical and cellular activities of MORC2 variants, alongside...

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Detalles Bibliográficos
Autores principales: Douse, Christopher H., Bloor, Stuart, Liu, Yangci, Shamin, Maria, Tchasovnikarova, Iva A., Timms, Richard T., Lehner, Paul J., Modis, Yorgo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811534/
https://www.ncbi.nlm.nih.gov/pubmed/29440755
http://dx.doi.org/10.1038/s41467-018-03045-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811534/
https://www.ncbi.nlm.nih.gov/pubmed/29440755
http://dx.doi.org/10.1038/s41467-018-03045-x

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