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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2010
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Accesso online: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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