ライフサイエンスコーパス: SCA7

1 ative disease spinocerebellar ataxia type 7 (SCA7).

2 tive disorder spinocerebellar ataxia type 7 (SCA7).

3 generative disease spinocerebellar ataxia 7 (SCA7).

4 ntic model of spinocerebellar ataxia type 7 (SCA7).

5 d counseling among families of patients with SCA7.

6 proteolysis in the molecular pathogenesis of SCA7.

7 been identified: SCA1, SCA2, SCA3, SCA6, and SCA7.

8 and retinal degeneration in a mouse model of SCA7.

9 that contribute to the tissue specificity of SCA7.

10 uding Huntington disease as well as SCA3 and SCA7.

11 effective target to reduce neurotoxicity in SCA7.

12 in cell culture and primary neuron models of SCA7.

13 ective pathology and neuronal dysfunction in SCA7.

14 Because enteric neuropathology in PrP-SCA7-92Q animals is easily missed by routine histopathol

15 The PrP-floxed-SCA7-92Q BAC mice developed neurological disease, and ex

16 cerebellar cell types, we crossed PrP-floxed-SCA7-92Q BAC mice with Gfa2-Cre transgenic mice (to dire

17 nic animals and tamoxifen-treated PrP-floxed-SCA7-92Q BAC single transgenic mice.

18 otypes are reversible, we crossed PrP-floxed-SCA7-92Q BAC transgenic mice with a tamoxifen-inducible

19 ive by deriving Gfa2-Cre;Pcp2-Cre;PrP-floxed-SCA7-92Q BAC triple transgenic mice, we noted a dramatic

20 PrP-floxed-SCA7-92Q BAC;CAGGS-Cre-ER bigenic mice were treated with

21 s through presymptomatic and symptomatic PrP-SCA7-92Q mice and nontransgenic littermates was compared

22 of cholinergic enteric ganglion cells in PrP-SCA7-92Q mice harbor nuclear inclusions composed of tran

23 PrP-SCA7-92Q mice may be useful models for human intestinal

24 The enteric neuropathology of PrP-SCA7-92Q mice was investigated after observing that they

25 PrP-SCA7-92Q transgenic mice phenocopy many aspects of the h

26 molecular mechanisms of neurodegeneration in SCA7, a two-hybrid assay was performed to identify ataxi

27 tion of 38 CAG repeats and her daughter with SCA7 and 46 repeats.

28 To gain insight into the pathogenesis of SCA7 and possible functions of ataxin-7, we examined the

29 e one common pathogenic response in SCA1 and SCA7 and reveal the importance of intercellular mechanis

30 valent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by expansion of a CAG repeat t

31 factor involved in the tissue specificity of SCA7 and that trichostatin A may ameliorate deleterious

32 nce accounts for the retinal degeneration in SCA7 and thus may provide an explanation for how cell-ty

33 A 38-year-old woman with classic SCA7 (and a son, who died at age 3 years) had pronounced

34 h subclinical spinocerebellar ataxia type 7 (SCA7) and a borderline mutation of 38 CAG repeats and he

35 Spinocerebellar ataxias 6 and 7 (SCA6 and SCA7) are neurodegenerative disorders caused by expansio

36 Here, we identify the protein Sgf73/Sca7 as a component of SAGA and SLIK, and a homologue of

37 ansion in the ataxin-7 protein, categorizing SCA7 as one member of a large class of heritable neurode

38 ic silencing using spinocerebellar ataxia 7 (SCA7) as a model.

39 These mice reproduced features of infantile SCA7 (ataxia, visual impairments, and premature death) a

40 Spinocerebellar ataxia type 7 (SCA7) belongs to a group of neurological disorders cause

41 munoreactivity in neurons that degenerate in SCA7 brains.

42 ivity of the DUBm, they likely contribute to SCA7 by initiating aggregates that sequester the DUBm aw

43 used this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample of an ind

44 ystem for determining the molecular basis of SCA7 CAG repeat instability.

45 sence of such sequence elements may make the SCA7 CAG repeat region more susceptible to instability.

46 repeat tracts in Drosophila, we crossed the SCA7 CAG90 repeat flies with various deficiency stocks,

47 We found that SCA7 CAG90 repeats are stable in Drosophila, regardless

48 otide repeat expansions, deriving flies with SCA7 CAG90 repeats in cDNA and genomic context.

49 ilized intergenerational transmission of the SCA7 CAG92 repeat.

50 of ataxin-7 in transfected COS-1 cells using SCA7 cDNA clones with different CAG repeat tract lengths

51 d lines of transgenic mice carrying either a SCA7 cDNA construct or a 13.5 kb SCA7 genomic fragment w

52 eat expansions are absent from the brains of SCA7 cDNA mice, our results indicate that neurodegenerat

53 analyses demonstrate reduced levels of S4 in SCA7 cerebella without evident alterations in the levels

54 tion interference is a predominant factor in SCA7 cone-rod dystrophy retinal degeneration.

55 ce lacking the D266N mutation, we found that SCA7-D266N mice exhibited improved motor performance, re

56 When we compared SCA7-D266N mice with SCA7 mice lacking the D266N mutatio

57 These findings indicate that SCA7 disease pathogenesis involves a convergence of alte

58 The results suggest that one mechanism of SCA7 disease pathogenesis is transcription dysregulation

59 ther caspase cleavage is a critical event in SCA7 disease pathogenesis, we generated transgenic mice

60 A inhibition that potentially contributes to SCA7 disease pathogenesis.

61 g of ataxin-7 by caspase-7 may contribute to SCA7 disease pathogenesis.

62 nic mice, we noted a dramatic improvement in SCA7 disease phenotypes.

63 sts between ataxin-7 proteolysis and in vivo SCA7 disease progression.

64 SAGA and SLIK, and a homologue of the human SCA7-encoded protein ataxin-7, which, in its polyglutami

65 The SCA7 gene product, ataxin-7, is an 897 amino acid protei

66 oding a polyglutamine tract in ataxin-7, the SCA7 gene product.

67 As the SCA7 genomic fragment contains a large number of replica

68 ng either a SCA7 cDNA construct or a 13.5 kb SCA7 genomic fragment with 92 CAG repeats.

69 The gene mutated in the disease (SCA7) has been mapped to chromosome 3p12-13.5, and posit

70 n ataxin-7 is able to compliment the loss of Sca7 in yeast.

71 ted infantile spinocerebellar ataxia type 7 (SCA7), in which a tract of (CAG)45 expands to lengths as

72 The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that

73 recapitulates the clinical features of human SCA7, including selective neuronal dysfunction, we asses

74 logy for a polyglutamine disease by relating SCA7-induced retinal degeneration to a disruption of the

75 SCA7 is caused by a CAG/polyglutamine (polyQ) repeat exp

76 In humans, SCA7 is characterized by marked anticipation due to inte

77 A unique feature of SCA7 is degeneration of photoreceptor cells in the retin

78 Our findings indicate that yeast Sca7 is necessary for the integrity and function of both

79 Spinocerebellar ataxia type 7 (SCA7) is a debilitating neurodegenerative disease caused

80 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited disorder characterized b

81 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disord

82 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease caused by expansion

83 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease caused by polygluta

84 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder caused by CAG/poly

85 Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by a

86 Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine (polyQ) disorder characterized

87 Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant cerebellar ataxia caused

88 Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder caused by a CAG

89 Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorde

90 Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder caused

91 tive disorder spinocerebellar ataxia type 7 (SCA7) is caused by a polyglutamine (polyQ) expansion in

92 Spinocerebellar ataxia type 7 (SCA7) is characterized by cone-rod dystrophy retinal deg

93 Spinocerebellar ataxia type 7 (SCA7) is one of the latest additions to the list of trip

94 ermined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 1

95 uses infantile-onset disease) into the mouse Sca7 locus to generate an authentic model of spinocerebe

96 Nearly all of the mutant sperm of two SCA7 males contain alleles that are so large that most o

97 tamate transporter GLAST was reduced in Gfa2-SCA7 mice and was associated with impaired glutamate tra

98 When we compared SCA7-D266N mice with SCA7 mice lacking the D266N mutation, we found that SCA7

99 expression strongly enhances retinopathy in SCA7 mice, but does not affect the known transcriptional

100 with the onset of a disease phenotype in the SCA7 mice, suggesting that nuclear localization and prot

101 not lead to the early lethality observed in SCA7 mice.

102 Tamoxifen treatment halted or reversed SCA7 motor symptoms, reduced ataxin-7 aggregation in Pur

103 ure of the Purkinje cell degeneration in our SCA7 mouse model indicates that polyglutamine-induced dy

104 so increased in the cerebellums of mice in a SCA7 mouse model.

105 ed to date in patients with SCA7, similar to SCA7 mouse models.

106 The SCA7 mutation probably has an early impact on brainstem

107 cumulation within the cell is a key event in SCA7 neurodegeneration, and enhancing clearance of polyQ

108 econdary to glial dysfunction contributes to SCA7 neurodegeneration, and suggest a similar role for g

109 To determine if SCA7 neurological and neurodegenerative phenotypes are r

110 The location of the putative SCA7 nuclear localization sequence (NLS) was confirmed b

111 n the case of spinocerebellar ataxia type 7 (SCA7), one of the most unstable of all CAG/CTG repeat di

112 Although the mechanisms of SCA7 pathogenesis remain poorly understood, previous stu

113 olytic cleavage may be important features of SCA7 pathogenesis.

114 se progression and play an important role in SCA7 pathogenesis.

115 agment of ataxin-7 in transgenic mice and in SCA7 patient material with both anti-ataxin-7 and anti-p

116 mulation of proteolytic cleavage products in SCA7 patients and mouse models has been identified as an

117 iest neurologic finding even in asymptomatic SCA7 patients with normal ocular fundi.

118 ed, translated CAG tract that is expanded in SCA7 patients.

119 pinocerebellar ataxia type 1 and 7 (SCA1 and SCA7) patients manifest cerebellar ataxia with degenerat

120 tribute to the time of onset and severity of SCA7 phenotypes, and suggest that non-transcriptional fu

121 Significantly, in relation to SCA7, poly(Q)-expanded ataxin-7 gets incorporated into S

122 t implications for the function of the human Sca7 protein in disease pathogenesis.

123 amine disease spinocerebellar ataxia type 7 (SCA7), Purkinje cells undergo non-cell-autonomous degene

124 disorder and spinocerebellar ataxia type 7 (SCA7; ref.

125 e analyses have previously revealed that the SCA7 repeat is highly unstable and liable to expand, in

126 rase chain reaction amplification across the SCA7 repeat tract assessed expansion levels in tissues o

127 nstability reported to date in patients with SCA7, similar to SCA7 mouse models.

128 nts, we studied two mouse models of SCA1 and SCA7 that express the glutamine-expanded protein from th

129 polyQ-expanded ataxin-7 cleavage products in SCA7 transgenic mice similar in size to those generated

130 his and other related disorders, we produced SCA7 transgenic mice that express ataxin-7 with 24 or 92

131 In SCA7 transgenic mice, electrophoretic mobility shift ass

132 on chromatin immunoprecipitation assays, in SCA7 transgenic mice.

133 ted severe Purkinje cell degeneration in 92Q SCA7 transgenic mice.

134 In an SCA7 transgenic mouse model that we developed, it was fo

135 In a SCA7 transgenic mouse model, recruitment of caspase-7 in

136 To further define the cellular basis of SCA7, we derived a conditional inactivation mouse model

137 Infantile SCA7, which is often paternally transmitted, can rarely