Promotion of Hyperphosphorylation by Frontotemporal Dementia Tau Mutations
نویسندگان
چکیده
منابع مشابه
Tau mutations in familial frontotemporal dementia.
The discovery of close to 20 different mutations in the gene encoding the microtubule-associated protein tau in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) has shown that dysfunction of tau protein causes neurodegeneration and dementia (Hutton et al., 1998; Poorkaj et al., 1998; Spillantini et al., 1998; reviewed in Spillantini et al., 2000). It has implications f...
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have recently been identified in over a dozen families Arnold Pick provided the first clinical description of fronwith FTDP-17 (Figure 1). The known exonic mutations totemporal dementia in 1892, and since then this class are missense mutations located in the microtubuleof disease has been shown to account for a significant binding repeat region or close to it (Figure 1a), whereas proportion of ...
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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...
متن کامل17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions.
BACKGROUND Frontotemporal dementia (FTD) is a clinically heterogeneous condition that can be associated with clinical manifestations of an extrapyramidal disorder or motor neuron disease. A range of histologic patterns has been described in patients with FTD. The most common familial form of this condition is caused by mutations in the microtubule-associated protein tau gene (MAP tau) and is as...
متن کاملMutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia.
The majority of cases with frontotemporal dementia (FTD) have no tau deposition in the brain, yet mutations in the tau gene lead to a similar clinical phenotype with insoluble tau depositing in neuropathological lesions. We report two tau gene mutations at positions +19 and +29, in the intronic sequences immediately following the stem loop structure in exon 10, which segregate with FTD. Exon-tr...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2004
ISSN: 0021-9258
DOI: 10.1074/jbc.m405131200