ライフサイエンスコーパス: SCA3

1 inant ataxia, spinocerebellar ataxia type 3 (SCA3).

2 d ataxin 3 in spinocerebellar ataxia type 3 (SCA3).

3 amine disease spinocerebellar ataxia type 3 (SCA3).

4 ghlighting early white matter dysfunction in SCA3.

5 a signs reached a plateau in SCA1, SCA2, and SCA3.

6 represent a promising therapeutic target in SCA3.

7 overall, SCA1 displays a larger cavity than SCA3.

8 olume for the internal hydrophobic cavity in SCA3.

9 syndrome, tested positive for SCA1, SCA2, or SCA3.

10 umn fractions (SCA1, 9370 Da; SCA2, 9384 Da; SCA3, 9484 Da).

11 esults shed light on disease pathogenesis in SCA3, a neurodegenerative disorder caused by polyglutami

12 repeat causes spinocerebellar ataxia type-3 (SCA3), also called Machado-Joseph disease, and is cleave

13 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an

14 A key unanswered question in SCA3 and other polyglutamine diseases is the extent to w

15 ernative splicing to disease pathogenesis in SCA3 and other polyglutamine disorders.

16 least a subset of polyQ disorders, including SCA3 and SCA1.

17 ses, including Huntington disease as well as SCA3 and SCA7.

18 rophy (DRPLA) Machado-Joseph disease (MJD or SCA3) and SCA2.

19 human disease spinocerebellar ataxia type 3 (SCA3) and the yeast prion Sup35, using Drosophila as a m

20 ents with SCA2, 1.56 (0.08) in patients with SCA3, and 0.80 (0.09) in patients with SCA6.

21 panded polyglutamine (poly-Q) proteins SCA1, SCA3, and huntingtin.

22 As, including the more prevalent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by e

23 common spinocerebellar ataxias: SCA1, SCA2, SCA3, and SCA6.

24 expands the repertoire of existing models of SCA3, and underscores the potential contribution of alte

25 es, including spinocerebellar ataxia type 3 (SCA3), are caused by CAG repeat expansions that encode a

26 gher CCFS scores than patients with SCA1 and SCA3, but similar SARA scores.

27 D cDNA, (CAG) in the SCA1 cDNA, (CAG) in the SCA3 cDNA and as an isolated (CAG) tract.

28 us to determine two amino acid variations in SCA3, compared with SCA1.

29 tical importance of host protein function in SCA3 disease and a potential therapeutic role of ataxin-

30 ized role for oligodendrocyte dysfunction in SCA3 disease pathogenesis.

31 Our results suggest that in SCA3, early Purkinje neuron dysfunction is associated wi

32 ration, Purkinje neurons in a mouse model of SCA3 exhibit increased intrinsic excitability resulting

33 e absence of a CAG expansion in the SCA1 and SCA3 genes.

34 onfirmed as elevated at the protein level in SCA3 human disease brainstem.

35 xacerbated long-term degeneration induced by SCA3 in branched sensory neurons and in a well establish

36 SCA1 displays higher activity than SCA3 in the in vitro pollen tube adhesion assay.

37 ainstem, a highly vulnerable brain region in SCA3, in a series of mouse models with varying degrees o

38 Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by a polygl

39 -Joseph disease or spinocerebellar ataxia 3 (SCA3) is a progressive neurodegenerative disorder caused

40 Spinocerebellar ataxia 3 (SCA3) is the most common autosomal dominant ataxia.

41 ipulated the repeat expansion in the variant SCA3 knock-in mouse by cell-type specific Cre/LoxP recom

42 We include two SCA3 knock-in mouse models: our previously published mod

43 SCA3 knockin mice exhibit region-specific aggregate path

44 This report of a SCA3 knockin mouse expands the repertoire of existing mo

45 Spinocerebellar ataxia type 3 (SCA3)/Machado Joseph disease results from expansion of t

46 ne the frequency of SCA2 compared with SCA1, SCA3/Machado-Joseph disease (MJD), and dentatorubropalli

47 e cell firing and improves motor function in SCA3 mice.

48 or protein misfolding in the pathogenesis of SCA3/MJD and suggest that modulating proteasome activity

49 In neurons from SCA3/MJD brain, the proteasome localized to intranuclear

50 Together, SCA1, SCA2, and SCA3/MJD constitute >40% of the mutations leading to ADC

51 Studies of SCA3/MJD disease brain confirm these findings, showing l

52 t that an early event in the pathogenesis of SCA3/MJD may be an altered conformation of ataxin-3 with

53 licating the ubiquitin-proteasome pathway in SCA3/MJD pathogenesis.

54 disease in Drosophila using a segment of the SCA3/MJD protein.

55 lar ataxia type-3 or Machado-Joseph disease (SCA3/MJD) is a member of the CAG/polyglutamine repeat di

56 Spinocerebellar ataxia type 3 (SCA3/MJD) is one of at least eight human neurodegenerati

57 ype 3, also known as Machado-Joseph disease (SCA3/MJD), is one of at least eight inherited neurodegen

58 bellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), or an unrelated green fluorescent protein fus

59 ype 3, also known as Machado-Joseph disease (SCA3/MJD), we show that the disease protein ataxin-3 acc

60 strate that ataxin-3, the disease protein in SCA3/MJD, adopts a unique conformation when expressed wi

61 degeneration), intermediate between SCA1 and SCA3/MJD, which account for 6% and 23%, respectively.

62 ing Rad23 levels alleviates toxicity in this SCA3 model.

63 generation in Spinocerebellar Ataxia Type 3 (SCA3), one of nine inherited, incurable diseases caused

64 ith positive genetic testing for SCA1, SCA2, SCA3, or SCA6 and with progressive, otherwise unexplaine

65 Aug 31, 2006, 526 patients with SCA1, SCA2, SCA3, or SCA6 were enrolled.

66 slowly than in patients with SCA1, SCA2, and SCA3 (p<0.0001).

67 Nach, an acid sensing ion channel, mitigates SCA3 pathogenesis in flies.

68 eins that interact with Ataxin-3 to modulate SCA3 pathogenicity using Drosophila.

69 (2+) signaling may play an important role in SCA3 pathology and that Ca(2+) signaling stabilizers suc

70 new and important insights for understanding SCA3 pathology as the nucleus is likely a key site for e

71 aved in mammalian cells, transgenic mice and SCA3 patient brain tissue.

72 athogenic Atx3 accumulated in the nucleus of SCA3 patient fibroblasts following oxidative stress.

73 3 cleavage might slow disease progression in SCA3 patients.

74 potential therapeutic drugs for treatment of SCA3 patients.

75 eraction as critical for the toxicity of the SCA3 protein, and emphasize the importance of considerin

76 ban functions downstream of toxicity of the SCA3 protein, to prevent degeneration.

77 nduced by the spinocerebellar ataxia type 3 (SCA3) protein ataxin-3, we isolated an upregulation alle

78 nduced by the spinocerebellar ataxia type 3 (SCA3) protein.

79 nocerebellar ataxia type 1 (SCA1) or type 3 (SCA3) proteins in Drosophila larval dendritic arborizati

80 amine disease spinocerebellar ataxia type 3 (SCA3), remains poorly understood.

81 The Arg(26) in SCA3, replacing the Gly(26) in SCA1, is predicted to cau

82 The Ala(71) in SCA3, replacing the Gly(71) in SCA1, has no predictable

83 SCA) genes have been identified: SCA1, SCA2, SCA3, SCA6, and SCA7.

84 gh which to enhance ataxin-3 degradation for SCA3 therapy.

85 s being a potential pathway mis-regulated in SCA3, we also found that down-regulation of Nach, an aci

86 In SCA3, we did not identify factors that affected progress

87 To further define pathogenic mechanisms in SCA3, we generated a mouse model in which a CAG expansio

88 To address this question in SCA3, we performed transcriptional profiling on the brai

89 , accounting for 40%, compared with SCA1 and SCA3 which account for 35% and 15%, respectively.

90 We found that feeding SCA3-YAC-84Q transgenic mice with dantrolene, a clinical