Article
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations.
Human molecular genetics - 1 Jun 2010
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
Abstract excerpt
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 endosomal structure that fuses with the lysosome to degrade endocytosed proteins. We report a novel endosomal...
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