Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

Mutations in CHMP2B cause frontotemporal dementia (FTD) in a large Danish pedigree, which is termed FTD linked to chromosome 3 (FTD-3), and also in an unrelated familial FTD patient. CHMP2B is a component of the ESCRT-III complex, which is required for function of the multivesicular body (MVB), an e...

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Главные авторы: Urwin, Hazel, Authier, Astrid, Nielsen, Jorgen E., Metcalf, Daniel, Powell, Caroline, Froud, Kristina, Malcolm, Denise S., Holm, Ida, Johannsen, Peter, Brown, Jeremy, Fisher, Elizabeth M.C., van der Zee, Julie, Bruyland, Marc, Van Broeckhoven, Christine, Collinge, John, Brandner, Sebastian, Futter, Clare, Isaacs, Adrian M.
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2010
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Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2865375/
https://ncbi.nlm.nih.gov/pubmed/20223751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq100
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