ライフサイエンスコーパス: tau mutation

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

2 iment and was significantly increased by the tau mutation.

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

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

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

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

7 ch were significantly increased by the P301L tau mutation.

8 olvement than microtubule-associated protein tau mutations.

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

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

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

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

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

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

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

16 A majority of FTD-causing tau mutations are located in the microtubule-binding dom

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

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

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

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

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

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

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

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

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

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

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

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

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

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

31 expand our understanding of how FTD-causing tau mutations dysregulate components of the neuronal cyt

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

33 Pathogenic tau mutations enhance this interaction, further increasi

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

35 a start codon can be introduced by two FTLD-Tau mutations, generating a protein consisting of multim

36 controls, we show that the FTD-causing V337M tau mutation impairs activity-dependent plasticity of th

37 ctrode arrays (MEAs) revealed that the V337M tau mutation in human neurons leads to an abnormal incre

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

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

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

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

42 The tau mutation is a semidominant autosomal allele that dra

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

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

45 Finally, three pathological tau mutations known to cause neurodegeneration and demen

46 How tau mutations lead to neurodegeneration is unknown but m

47 luding the AT8 phospho-epitope and the P301L tau mutation linked to an inherited tauopathy.

48 Tau mutations may be pathogenic either by altering prote

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

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

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

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

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

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

55 notypes associated with the pathogenic P301L tau mutation (rT2 mice) in relation to a genetically mat

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

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

58 Q within the context of the pathogenic P301L tau mutation strongly inhibited prion-like seeded aggreg

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

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

61 The identification of tau mutations that cause familial dementia demonstrated

62 tau mutations that deregulate alternative exon 10 (E10)

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

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

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

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

67 3.6% (9.4% in familial cases); in contrast, tau mutations were not detected in the Minnesota communi

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

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

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

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

72 The existence of tau mutations with distinct pathogenetic mechanisms may

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