Inflammatory markers of CHMP2B-mediated frontotemporal dementia
نویسندگان
چکیده
منابع مشابه
The role of CHMP2B in frontotemporal dementia.
Mutations in the CHMP2B (charged multivesicular body protein 2B) gene that lead to C-terminal truncations of the protein can cause frontotemporal dementia. CHMP2B is a member of ESCRT-III (endosomal sorting complex required for transport III), which is required for formation of the multivesicular body, a late endosomal structure that fuses with the lysosome to degrade endocytosed proteins. Over...
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CHMP2B mutations are a rare cause of autosomal dominant frontotemporal dementia (FTD). The best studied example is frontotemporal dementia linked to chromosome 3 (FTD-3) which occurs in a large Danish family, with a further CHMP2B mutation identified in an unrelated Belgian familial FTD patient. These mutations lead to C-terminal truncations of the CHMP2B protein and we will review recent advan...
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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 nove...
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Objective Frontotemporal dementia (FTD) is an uncommon type of dementia. The hallmark feature of FTD is the presentation with aphasia, or behavioral changes which are varies in different subtypes of the disease. We propose a quantitative aphasia test as an additive diagnostic tool for differentiation of FTD subtypes. Method: The study was performed on 20 patients, who were referred to dementia...
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The truncated mutant form of the charged multivesicular body protein 2B (CHMP2B) is causative for frontotemporal dementia linked to chromosome 3 (FTD3). CHMP2B is a constituent of the endosomal sorting complex required for transport (ESCRT) and, when mutated, disrupts endosome-to-lysosome trafficking and substrate degradation. To understand the underlying molecular pathology, FTD3 patient induc...
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ژورنال
عنوان ژورنال: Journal of Neuroimmunology
سال: 2018
ISSN: 0165-5728
DOI: 10.1016/j.jneuroim.2018.08.009