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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865375/
https://www.ncbi.nlm.nih.gov/pubmed/20223751
http://dx.doi.org/10.1093/hmg/ddq100

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