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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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Detaylı Bibliyografya
Yayımlandı:Nat Commun
Asıl Yazarlar: Douse, Christopher H., Bloor, Stuart, Liu, Yangci, Shamin, Maria, Tchasovnikarova, Iva A., Timms, Richard T., Lehner, Paul J., Modis, Yorgo
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2018
Konular:
Online Erişim: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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