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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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Publicat a:Nat Commun
Autors principals: Douse, Christopher H., Bloor, Stuart, Liu, Yangci, Shamin, Maria, Tchasovnikarova, Iva A., Timms, Richard T., Lehner, Paul J., Modis, Yorgo
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5811534/
https://ncbi.nlm.nih.gov/pubmed/29440755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-03045-x
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