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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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Pubblicato in:Nat Commun
Autori principali: Douse, Christopher H., Bloor, Stuart, Liu, Yangci, Shamin, Maria, Tchasovnikarova, Iva A., Timms, Richard T., Lehner, Paul J., Modis, Yorgo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2018
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Accesso online: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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