P3-066: A Cellular Expression Model of TAU Hyperphosphorylation and Aggregation That does not Utilize Frontotemporal Dementia 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...
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...
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 کاملTau Mutations Cause Frontotemporal Dementias
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 ...
متن کاملTau alternative splicing and frontotemporal dementia.
A number of neurodegenerative diseases are characterized by the presence of abundant deposits containing Tau protein. Expression of the human tau gene is under complex regulation. Mutations in the tau gene have been identified in patients with frontotemporal lobe dementia. These mutations affect either biochemical/biophysical properties or the delicate balance of different splicing isoforms. In...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Alzheimer's & Dementia
سال: 2016
ISSN: 1552-5260
DOI: 10.1016/j.jalz.2016.06.1724