ライフサイエンスコーパス: tau mutation

1 iment and was significantly increased by the tau mutation.

2 cortex from a case of FTDP-17 with the P301L tau mutation.

3 ting of two Japanese kindreds with the S305N tau mutation.

4 a recent study on kindred with the Glu342Val tau mutation.

5 he period of this rhythm is shortened by the tau mutation.

6 d transgenic mice expressing the human P301L-Tau mutation.

7 olvement than microtubule-associated protein tau mutations.

8 The data also demonstrate that the tau mutation affects circadian function in a cell-autono

9 neration and familial tauopathy due to N279K tau mutation and 3-repeat isoforms in brains of Pick's d

10 se genes (19 with C9ORF72 mutations, 25 with tau mutations and 12 with progranulin mutations) and 20

11 omedial temporal atrophy was associated with tau mutations and temporoparietal atrophy was associated

12 id-beta precursor protein, presenilin 1, and tau mutations, and apolipoprotein E, the strongest genet

13 f AD, which overexpresses human APP, PS1 and tau mutations, and progressively develops amyloid plaque

14 However, since no tau mutations are found in AD, it remains unclear how ap

15 However, as most tau mutations are located within or around the alternati

16 chanism in which MAPT, the gene that encodes Tau, mutations are dominantly inherited.

17 We report here that PSG-1 has a tau mutation at position +16 of the intron after exon 10

18 Genetic tau mutations can cause FTDP-17, and mice overexpressing

19 we show that missense, silent, and intronic tau mutations can increase or decrease splicing of tau e

20 Microtubule-associated protein tau mutations cause a group of neurodegenerative disease

21 ome and hereditary Creuzfeldt-Jakob disease, tau mutations cause autosomal dominant frontal temporal

22 Tau mutations cause FTD, but how mutant tau impairs the

23 Thus, tau mutations cause FTDP-17 by multiple pathological mec

24 The mechanisms by which tau mutations cause neurodegeneration vary and are uncle

25 We conclude that the tau mutation causes these differences in gene expression

26 Here we have tested the hypothesis that Tau mutations causing neurodegeneration also alter the a

27 s of arsenite on the phosphorylation of some tau mutations (DeltaKappa280, V337M, and R406W) associat

28 The tau mutation directly affects the SCN, and shortens the

29 auopathy model by introducing a novel 5-fold Tau mutation eliminating the need of artificial tauopath

30 ucine ((R)5(L)), mimicking an amino-terminal tau mutation found in a single case of FTDP-17, enhances

31 carrying the Drosophila dbt(S) or vertebrate tau mutations in all circadian cells leads to short-peri

32 The finding of tau mutations in other dementias has added weight to the

33 Disease-associated tau mutations in the PRR (K369I, G389R) did not influenc

34 Disease-related tau mutations increase the formation of highly dynamic b

35 The tau mutation is a semidominant autosomal allele that dra

36 The results indicate that the tau mutation is associated with changes in the timing, b

37 whether such Pin1 regulation is affected by tau mutations is unknown.

38 How tau mutations lead to neurodegeneration is unknown but m

39 Tau mutations may be pathogenic either by altering prote

40 e diseases known as tauopathies; however, no tau mutations occur in Alzheimer's disease, although thi

41 Different effects of the dbt(S) and tau mutations on the oscillations of PER phosphorylation

42 neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau,

43 We expressed normal and FTDP-17 mutant human tau (mutations P301L and V337M) in Caenorhabditis elegan

44 We describe the final missing stem loop tau mutation predicted 15 years ago.

45 Here, we show that four of the FTDP-17 tau mutations, R406W, V337M, G272V, and P301L, result in

46 tive processes in the presence of pathogenic tau mutation.SIGNIFICANCE STATEMENT Accumulation of p25

47 rly, excision of the short-period CK1epsilon tau mutation specifically from SCN astrocytes resulted i

48 obe) atrophy (microtubule-associated protein tau mutations); strongly asymmetric, distributed atrophy

49 mice that develop neurodegeneration due to a tau mutation that causes frontotemporal dementia (FTD).

50 The identification of tau mutations that cause familial dementia demonstrated

51 tau mutations that deregulate alternative exon 10 (E10)

52 tudy we assessed the genetic contribution of tau mutations to three patient series with non-Alzheimer

53 cific silencing against a well-characterized tau mutation (V337M) and the most widely studied APP mut

54 ized siRNA to specifically target a missense Tau mutation, V337M, that causes frontotemporal dementia

55 disease and familial tauopathy due to G272V tau mutation were sensitively detected by PBB3 fluoresce

56 3.6% (9.4% in familial cases); in contrast, tau mutations were not detected in the Minnesota communi

57 d Manchester frontotemporal dementia series, tau mutations were present in 13.6% of cases (three spli

58 and JNPL3 transgenic mice bearing the P301L (Tau) mutation were compared to control non-transgenic (N

59 tation in the enzyme casein kinase 1epsilon (tau mutation), which accelerates free-running circadian

60 vior in transgenic mice with the P301S human tau mutation, which causes familial frontotemporal lobar

61 The existence of tau mutations with distinct pathogenetic mechanisms may

62 ring the biochemical activities of different tau mutations with their in vivo toxicity in a well cont