ライフサイエンスコーパス: CAG repeat

1 do-Joseph Disease, also contains an expanded CAG repeat.

2 ulnerable to the dominant effects of the HTT CAG repeat.

3 protective in the context of an expanded HTT CAG repeat.

4 et are determined largely by the size of HTT CAG repeat.

5 aused by expansion of polyglutamine-encoding CAG repeats.

6 iate the stress-induced mutagenesis (SIM) of CAG repeats.

7 ntingtin gene (mHTT), which harbors expanded CAG repeats.

8 were inversely correlated with the number of CAG repeats.

9 lutamine (polyQ) domains encoded by expanded CAG repeats.

10 hat prevents expansion of disease-associated CAG repeats.

11 omatic instability of highly expanded (CTG)*(CAG) repeats.

12 are caused by unstable expansions of (CTG)*(CAG) repeats.

13 The ORs were 2.70 (95% CI, 1.47-4.93) for 31 CAG repeats, 11.09 (95% CI, 4.16-29.57) for 32 repeats,

14 untingtin alleles and other mRNAs containing CAG repeats [14].

15 sporadic +1 frameshift to generate from the CAG repeat a trans-frame AGC repeat-encoded product.

16 RNA duplexes; (ii) the sequences surrounding CAG repeats affect allele-selectivity of anti-CAG oligon

17 ich contains the human HD mutation with a 51 CAG repeat allele, exhibits motor deficits that begin wh

18 This dataset covers 6 CAG repeat alleles and 3 age points in the striatum and

19 is a neurodegenerative disorder caused by a CAG repeat amplification in the gene huntingtin (HTT) th

20 ipts dependent on the length of the targeted CAG repeat and on the CTG repeat length and concentratio

21 Combining both the length of the CAG repeat and RAO as comodifiers explained up to 47% of

22 n factors (ZFP-TFs) to target the pathogenic CAG repeat and selectively lower mHTT as a therapeutic s

23 uences associated with Huntington's disease (CAG repeats) and myotonic dystrophy type 1 (CTG repeats)

24 t length and genetic background (115 and 250 CAG repeats, and a mixed CBAxC57 or pure C57 background)

25 hanges, or cell loss in the tgHD rat with 51 CAG repeats, and suggest that this protocol could provid

26 In budding yeast, we found that expanded CAG repeats are more likely than unexpanded repeats to l

27 Expanded CAG repeats are prone to breakage, and repair of the bre

28 , these perturbations are overcome in longer CAG repeats, as demonstrated by studies of isolated and

29 , relevant to myotonic dystrophy type I, and CAG repeats associated with poly-glutamine diseases.

30 llite, most commonly encoding (as in mice) a CAG repeat-associated glutamine-rich domain.

31 persistent double-stranded breaks, expanded CAG repeats at the nuclear envelope associate with pores

32 resses somatic expansion of the Htt knock-in CAG repeat, blocked the Fan1 knock-out-induced accelerat

33 ops can trigger repeat instability at (CTG).(CAG) repeats, but the mechanism of this is unclear.

34 For example, expanded CAG repeats can cause Huntington's and other disease thr

35 nucleic acid antisense oligomers that target CAG repeats can preferentially inhibit mutant ataxin-3 a

36 The expanded HTT CAG repeat causing Huntington's disease (HD) exhibits so

37 rroneously harbors a tandem duplicate of the CAG repeat-containing exon, and a corrected model, intro

38 sion repair (BER) is responsible for causing CAG repeat contractions downstream of Fcy1, but not frag

39 A significant increase in CAG repeat contractions was also observed, consistent wi

40 (SSBR) in modulating transcription-dependent CAG repeat contractions.

41 ned significant after adjustment for age and CAG repeat count.

42 ine, with and without adjustment for age and CAG repeat count.

43 hat base excision repair (BER) can result in CAG repeat deletion from R-loops in yeast.

44 of a DNA base lesion can also contribute to CAG repeat deletions that were initiated by the formatio

45 t are precisely associated with the shape of CAG repeat dependence over time, among which 5 pairs wit

46 e-onset HD (JHD) lines, which appeared to be CAG repeat-dependent and mediated by the loss of signali

47 tes that functional MLH1 is required for the CAG repeat destabilizing effect of FAN1 loss.

48 There are now 10 expanded CAG repeat diseases in which both disease risk and age o

49 esponsible for neurodegeneration in expanded CAG repeat diseases such as Huntington's disease.

50 of their central importance in the expanded CAG repeat diseases that include Huntington's disease.

51 the nature of the toxic species in expanded CAG repeat diseases.

52 other neurodegenerative diseases, including CAG repeat disorders, or in peripheral tissues of c9FTD/

53 We show that FAN1 binds to the expanded HTT CAG repeat DNA and its nuclease activity is not required

54 We show further that SIM of CAG repeats does not involve mismatch repair, nucleotide

55 c expansion of the Huntington's disease (HD) CAG repeat drives the rate of a pathogenic process ultim

56 ere, we discovered size-limited expansion of CAG repeats during repair of 8-oxoG in a wild-type mouse

57 sions, and H4K16 acetylation was enriched at CAG repeats during S phase.

58 disease is initiated by the expression of a CAG repeat-encoded polyglutamine region in full-length h

59 erative disease caused by the expansion of a CAG repeat encoding a polyglutamine tract in Ataxin-1 (A

60 egenerative disease caused by expansion of a CAG repeat encoding a polyglutamine tract in ATXN7, a co

61 isorders strongly depend on the expansion of CAG repeats encoding consecutive polyglutamines (polyQ)

62 egenerative disorders caused by expansion of CAG repeats encoding polyglutamine (polyQ) tracts in CAC

63 mortality, so we tested whether the expanded CAG repeat exerts a dominant influence on age at death a

64 sted for their relation to the length of the CAG repeat expansion and to the residual age at onset (R

65 these studies support the process of somatic CAG repeat expansion as a therapeutic target in HD, and

66 xoguanine (8-oxoG) is implicated in neuronal CAG repeat expansion associated with Huntington disease,

67 nocopy of Huntington's disease caused by CTG/CAG repeat expansion at the Junctophilin-3 (JPH3) locus.

68 is the most prevalent member of a family of CAG repeat expansion disorders.

69 fatal neurodegenerative disorder caused by a CAG repeat expansion encoding a polyglutamine tract in t

70 ATXN2, ATXN3, ATXN7, TBP and CACNA1A and the CAG repeat expansion gene PPP2R2B.

71 We also assessed ATXN1 CAG repeat expansion in brain regions of an individual w

72 FAN1 overexpression in human cells reduces CAG repeat expansion in exogenously expressed mutant HTT

73 ssive neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of huntingtin (HTT).

74 It is caused by a CAG repeat expansion in exon 1 of the HTT gene that tran

75 pression studies, knockout of FAN1 increased CAG repeat expansion in HD-induced pluripotent stem cell

76 HD) is determined largely by the length of a CAG repeat expansion in HTT but is also influenced by ot

77 ninety-eight patients carried a pathological CAG repeat expansion in HTT, whereas 28 patients (12 wom

78 ntington's disease (HD), a disease caused by CAG repeat expansion in huntingtin (htt).

79 an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor gene.

80 dominant neurodegenerative disease caused by CAG repeat expansion in the ATXN2 gene.

81 disorder caused by a polyglutamine-encoding CAG repeat expansion in the ATXN3 gene.

82 disease is caused by an abnormally expanded CAG repeat expansion in the HTT gene, which confers a pr

83 Huntington's disease (HD), caused by a CAG repeat expansion in the huntingtin (HTT) gene, is ch

84 HD is caused by a CAG repeat expansion in the Huntingtin (HTT) gene, trans

85 HD is caused by a CAG repeat expansion in the huntingtin (HTT) gene, while

86 Huntington's disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.

87 Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene.

88 rited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene.

89 HD) is a neurodegenerative disease caused by CAG repeat expansion in the huntingtin gene (HTT) and in

90 Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT.

91 fatal neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene.

92 rited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene.

93 The CAG repeat expansion in the Huntington's disease gene HT

94 RNA is toxic, and at the DNA level, somatic CAG repeat expansion in vulnerable cells influences the

95 rited neurodegenerative disorder caused by a CAG repeat expansion leading to an elongated polyglutami

96 ase (HD) reflects dominant consequences of a CAG repeat expansion mutation in HTT.

97 HD is caused by a trinucleotide CAG repeat expansion that encodes a polyglutamine stretc

98 The CACNA1A CAG repeat expansion was excluded.

99 ssive neurodegenerative disorder caused by a CAG repeat expansion within exon 1 of HTT, encoding hunt

100 rited neurodegenerative disorder caused by a CAG repeat expansion within exon 1 of the huntingtin (HT

101 odegenerative disorder caused by an abnormal CAG repeat expansion within exon 1 of the huntingtin gen

102 ulbar muscular atrophy (SBMA) results from a CAG repeat expansion within the androgen receptor gene (

103 hat functional FAN1 acts to suppress somatic CAG repeat expansion, likely in genetic interaction with

104 HDL2 is caused by a CTG/CAG repeat expansion.

105 oordination during long-patch BER results in CAG repeat expansion.

106 ivity is not required for protection against CAG repeat expansion.

107 dium spiny neurons, FAN1 knockdown increases CAG repeat expansion.

108 he protein-coding sequence evolved through a CAG repeat expansion.

109 (HD) reflects the dominant consequences of a CAG-repeat expansion in HTT.

110 mine (polyQ) diseases, which are caused by a CAG-repeat expansion within the coding region of the ass

111 However, the prevalence of HTT CAG repeat expansions among individuals diagnosed with m

112 es, which are believed to be responsible for CAG repeat expansions associated with certain human neur

113 Msh3-/- cells are severely defective for CTG*CAG repeat expansions but show full activity on contract

114 Recent studies have demonstrated that CAG repeat expansions can be initiated by oxidative DNA

115 n other polyglutamine diseases, suggest that CAG repeat expansions can promote aberrant splicing to p

116 CTG*CAG repeat expansions cause at least twelve inherited ne

117 Huntington disease phenocopies without CAG repeat expansions in HTT are not rare, occurring in

118 Huntington's disease is caused by CAG repeat expansions in the HTT gene, which encodes the

119 ron disease is often seen in SCA2, and ATXN2 CAG repeat expansions in the long normal range increase

120 Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS.

121 nd her uncle with ALS have full pathological CAG repeat expansions of ATXN2.

122 rebellar ataxia type 3 (SCA3), are caused by CAG repeat expansions that encode abnormally long glutam

123 tion were required to prevent Rad5-dependent CAG repeat expansions, and H4K16 acetylation was enriche

124 age by flap endonuclease 1 (FEN1) to mediate CAG repeat expansions.

125 CAG repeats form stable hairpin structures, which are be

126 ase Fcy1 significantly decreased the rate of CAG repeat fragility and contractions in the rnh1Deltarn

127 Nup84 pore subcomplex and Slx5/8 suppresses CAG repeat fragility and instability.

128 Shorter wild-type alleles, other genomic CAG-repeat genes, and neighboring genes were unaffected.

129 ington's disease models in which an expanded CAG repeat had been knocked in to the endogenous Htt gen

130 base lesion located in the loop region of a CAG repeat hairpin can remove the hairpin, attenuating r

131 Our results indicate that long CAG repeats have a particular need for Tof1 and highligh

132 es mouse HD gene homolog (Hdh) with extended CAG repeat- HdhQ250, which was derived from the selectiv

133 electively target sequences flanking the HTT CAG repeat (HTTex1a and HTTex1b).

134 th expanded alleles containing 44, 77 or 109 CAG repeats, HTTex1a and HTTex1b were effective in suppr

135 ion of huntingtin (Htt) exon 1 with expanded CAG repeats, implicated in Huntington pathology, undergo

136 disease caused by expansion of a translated CAG repeat in Ataxin-1 (ATXN1).

137 r data imply that the length of the expanded CAG repeat in ATXN3 is a major determinant of clinical d

138 tive disorder caused by the expansion of the CAG repeat in exon 1 of the huntingtin (HTT) gene, which

139 We assessed the sequence downstream of the CAG repeat in HTT [reference: (CAG)n-CAA-CAG], since var

140 uence on somatic instability of the expanded CAG repeat in Htt CAG knock-in mice.

141 rodegenerative disease caused by an expanded CAG repeat in HTT.

142 d up to a 15-fold increase in changes to the CAG repeat in human and rodent cell lines, and that long

143 (MND) caused by an abnormal expansion of the CAG repeat in the androgen receptor (AR) gene on the X-c

144 untington's disease is caused by an expanded CAG repeat in the gene encoding huntingtin (HTT), result

145 odegenerative disorder caused by an expanded CAG repeat in the gene encoding huntingtin (HTT).

146 ombination at an ectopic hairpin forming CTG/CAG repeat in the HeLa genome.

147 monogenic disease, is caused by an expanded CAG repeat in the HTT gene exceeding 35 units.

148 odegenerative disorder caused by an expanded CAG repeat in the HTT gene.

149 erative disease caused by the expansion of a CAG repeat in the HTT gene.

150 isease caused by a pathogenic expansion of a CAG repeat in the huntingtin (HTT) gene.

151 rodegenerative disease caused by an expanded CAG repeat in the huntingtin (HTT) gene.

152 gton's disease (HD) is caused by an expanded CAG repeat in the Huntingtin (HTT) gene.

153 It is caused by expansion of the CAG repeat in the huntingtin gene (HTT) and characterize

154 riably fatal, HD is caused by expansion of a CAG repeat in the Huntingtin gene, creating an extended

155 odegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an abno

156 erative disease caused by the expansion of a CAG repeat in the huntingtin gene.

157 odegenerative disorder caused by an expanded CAG repeat in the huntingtin gene.

158 l neuropathological grade, postmortem delay, CAG repeat in the IT15 gene, or age at death.

159 Although expansion of CAG repeats in ATAXIN1 (ATXN1) causes Spinocerebellar at

160 nt for characterizing the effects of DSBs on CAG repeats in cells.

161 uclease HI stimulates the instability of CTG.CAG repeats in E. coli.

162 mmon genetic cause, which is an expansion of CAG repeats in the coding region of the causative genes

163 abnormal expansion of glutamine (Q) encoding CAG repeats in the gene Ataxin-1 (ATXN1).

164 e disease is caused by abnormal expansion of CAG repeats in the gene encoding huntingtin, but how mut

165 ve disorder caused by an increased number of CAG repeats in the HTT gene coding for huntingtin.

166 eurodegenerative disorder caused by expanded CAG repeats in the huntingtin (HTT) gene.

167 We first determined that the ZFNs cleave CAG repeats in vitro.

168 MJD), the expanded cytosine adenine guanine (CAG) repeat in ATXN3 is the causal mutation, and its len

169 fferent numbers of cytosine-adenine-guanine (CAG) repeats in a fragment of the gene responsible for H

170 Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in

171 knock-out increased somatic expansion of Htt CAG repeats, in the juvenile- and the adult-onset HD ran

172 which have human huntingtin exon 1 with 140 CAG repeats inserted into the endogenous mouse huntingti

173 f pathways involved in transcription-induced CAG repeat instability and begin to define their interre

174 suggests that tissue-to-tissue variation in CAG repeat instability arises, in part, by different und

175 ty bias to devise a method to assess average CAG repeat instability at the protein level in a mixed p

176 also showed that transcription-dependent CTG.CAG repeat instability in human cells is stimulated by s

177 as to whether or not MutSbeta is involved in CAG repeat instability in humans.

178 This work establishes that CAG repeat instability in mutant HTT is reflected at the

179 e germline; however, it dramatically reduces CAG repeat instability in neuronal tissues-striatum, hip

180 NOT2/3/5 conserved domain, as a modifier of CAG repeat instability in vivo.

181 e culture assay for identifying modifiers of CAG repeat instability, we found that transfection of ZF

182 arly if the therapeutic agent aims to reduce CAG repeat instability.

183 t of Rrm2b did not greatly alter somatic Htt CAG repeat instability.

184 loop formation and reveal two mechanisms for CAG repeat instability: one mediated by cytosine deamina

185 dary structure-forming DNA sequences such as CAG repeats interfere with replication and repair, provo

186 The length of the CAG repeat is inversely correlated with age of onset (AO

187 ypothesis that somatic instability of the HD CAG repeat is itself a modifier of disease.

188 that a cis-regulatory effect of the expanded CAG repeat is not a critical component of the underlying

189 ich the intron immediately downstream of the CAG repeat is retained.

190 The HD CAG repeat is somatically unstable, undergoing progressi

191 ssion of antisense transcripts with expanded CAG repeats is limited.

192 nsion beyond a threshold of approximately 35 CAG repeats is the cause of several human diseases.

193 n of 1 x 1 nucleotide AA internal loops in r(CAG) repeats is anti-anti but can adopt syn-anti dependi

194 Expanded CAG repeats lead to debilitating neurodegenerative disor

195 icipants aged 26 to 57 years had an expanded CAG repeat length (>/= 37).

196 ease can be improved beyond that obtained by CAG repeat length and age alone.

197 ith those who did not, after controlling for CAG repeat length and age-related risk (p=0.006 and 0.00

198 ificant predictors of motor diagnosis beyond CAG repeat length and age.

199 G repeat length, age, and the interaction of CAG repeat length and age.

200 sease progression and the combined effect of CAG repeat length and age.

201 uced gene proximity, androgen receptor exon1 CAG repeat length and expression of the PIWIL1 gene.

202 /2 Huntington's Disease models, differing in CAG repeat length and genetic background (115 and 250 CA

203 this read-through product is proportional to CAG repeat length and is present in all knock-in mouse m

204 exhibited a strong correlation with average CAG repeat length at the genomic DNA level determined by

205 nsistent with the hypothesis that somatic HD CAG repeat length expansions in target tissues contribut

206 Age and CAG repeat length explained variance in longitudinal cha

207 CAG repeat length explains around half of the variation

208 lished by December 29, 2013, reporting ATXN2 CAG repeat length in patients with ALS and controls.

209 in insight into how mutant huntingtin (mHtt) CAG repeat length modifies Huntington's disease (HD) pat

210 However, the contribution of the expanded CAG repeat length to the rate of disease progression aft

211 serum testosterone levels and inversely with CAG repeat length, age and duration of weakness.

212 osis of Huntington's disease, accounting for CAG repeat length, age, and the interaction of CAG repea

213 n of 11 HD participants had known huntingtin CAG repeat length, allowing determination of a burden of

214 In a model adjusted for age, CAG repeat length, and caloric intake, MeDi was not asso

215 had prognostic value, independent of age and CAG repeat length, for predicting subsequent clinical di

216 individually matched with incident cases on CAG repeat length, sex, and age, who were not diagnosed

217 ormulas have been developed based on age and CAG repeat length, to predict when HD motor onset will o

218 Here we show that CAG repeat length-dependent aberrant splicing of exon 1

219 abilizing effects are FAN1 concentration and CAG repeat length-dependent.

220 effects can hasten or delay onset and other CAG repeat length-driven phenotypes.

221 nd protein were not associated with expanded CAG repeat length.

222 AO and the AO predicted on the basis of the CAG repeat length.

223 ssociation between cytosine-adenine-guanine (CAG) repeat length and age at onset of Huntington's dise

224 t, HD age at death is determined by expanded CAG-repeat length and has no contribution from the norma

225 HTT haplotypes were associated with altered CAG-repeat length distribution or residual age at the on

226 e selected behavioral signatures for age and CAG-repeat length that most robustly distinguished betwe

227 elating atrophy to the genetic marker of HD (CAG-repeat length) and motor and cognitive symptoms.

228 elic series of R6/2 mice carrying a range of CAG repeat lengths between 109 and 464.) This analysis r

229 CAG repeat lengths of 36 or greater were observed in six

230 The ATXN2 CAG repeat lengths ranged from 13 to 39 in patients with

231 from an iterative strategy yielded predicted CAG repeat lengths that were significantly positively co

232 HD mouse model, R6/2, carrying two different CAG repeat lengths, and a relatively high degree of over

233 gradient of decreasing pathology with longer CAG repeat lengths, reflecting our previous findings wit

234 m DM1 fibroblasts, all showing different CTG.CAG repeat lengths, thus demonstrating somatic instabili

235 amples from HD knock-in mice with increasing CAG repeat lengths.

236 icted by the length of their constitutive HD CAG repeat lengths.

237 itive DNA, though it becomes crucial at long CAG repeat lengths.

238 3,086 behavioral traits with seven different CAG-repeat lengths in the huntingtin gene (Htt).

239 of endogenous mouse HTT genes, with variable CAG-repeat lengths.

240 tisense oligonucleotide complementary to the CAG repeat (LNA-CTG) preferentially binds to mutant HTT

241 tificial ZFP chains, designed to bind longer CAG repeats more strongly than shorter repeats.

242 n-enriched RNA from flies expressing a toxic CAG-repeat mRNA (CAG100) and a non-toxic interrupted CAA

243 inates both stress-induced rereplication and CAG repeat mutagenesis.

244 irs motor function in men and is linked to a CAG repeat mutation in the androgen receptor (AR) gene.

245 th human huntingtin protein with an expanded CAG repeat mutation in the juvenile range.

246 s disease (HD), the size of the expanded HTT CAG repeat mutation is the primary driver of the process

247 determined primarily by the length of the HD CAG repeat mutation, but is also influenced by other mod

248 ith increased Alzheimer's disease (AD) risk, CAG repeat number in AD patients is not changed.

249 Since disease-causing CAG repeats occur in transcribed regions, our results su

250 s provide evidence that breakage at expanded CAG repeats occurs due to R-loop formation and reveal tw

251 rmal expansion in the polyglutamine encoding CAG repeat of the androgen receptor gene.

252 study of using RepeatHMM-DB, we evaluate the CAG repeats of ATXN3 for 20 patients with spinocerebella

253 alyzed the role of Mrc1 and Tof1 at expanded CAG repeats of medium and long lengths, which are known

254 ing the rate of somatic expansion of the HTT CAG repeat or altering the resulting CAG threshold lengt

255 with strong selectivity for CUG repeats over CAG repeats or CAG-CUG duplex RNA.

256 ense oligonucleotides (ASOs) targeted to the CAG repeat region of HTT transcripts have been of partic

257 disorder caused by a toxic expansion in the CAG repeat region of the huntingtin gene.

258 he nontemplate DNA strand at transcribed CTG.CAG repeats remains partially single-stranded in human g

259 l repeat range, supporting the view that the CAG repeat represents a functional polymorphism with dom

260 Convergent transcription through a CAG repeat represents a novel mechanism for triggering a

261 Ataxin-3 polyQ protein could also modify the CAG-repeat RNA toxicity.

262 egulation of heat shock protein 70 mitigates CAG-repeat RNA toxicity.

263 cent findings, however, demonstrate that the CAG-repeat RNA, which encodes the toxic polyQ protein, a

264 modifiers of both polyQ protein toxicity and CAG-repeat RNA-based toxicity.

265 se damage (e.g., 8-oxo-dG) occurs at or near CAG repeat sequences.

266 r nucleases (ZFNs) that recognize and cleave CAG repeat sequences.

267 Expanded CAG repeat size is the primary determinant of age at ons

268 n (all p < 0.001), independent of mutant HTT CAG repeat size.

269 The CAG repeat specifies glutamine, and the expanded polyQ d

270 stone H4 acetylation is required to maintain CAG repeat stability and promote gap-induced sister chro

271 are nearly identical in amino acid sequence, CAG repeat stability depends on H2A copy 1 (H2A.1) but n

272 The genetic cause is an expansion of the CAG repeat stretch in the HTT gene encoding huntingtin p

273 an cDNA fragment of the TBP gene with 64 CAA/CAG repeats (TBPQ64).

274 The expanded CAG repeat that causes striatal cell vulnerability in Hu

275 SCA7 and SCA17 are caused by expansion of a CAG repeat that encodes a polyglutamine tract in the aff

276 on disease (HD) is caused by an expanded HTT CAG repeat that leads in a length-dependent, completely

277 w that FAN1 affects somatic expansion of the CAG repeat through a nuclease-independent mechanism.

278 by the increased propensity of the expanded CAG repeats to form a stem-loop structure.

279 xia type 1 (SCA1), which carries an expanded CAG repeat tract at the endogenous mouse Sca1 locus.

280 5'S)-5',8-cyclo-2'-deoxyadenosine (cdA) in a CAG repeat tract caused CTG repeat deletion exclusively

281 ington's disease (HD), caused by an expanded CAG repeat tract in HTT, genetic variation has been unco

282 dative stresses induce mutagenesis of a long CAG repeat tract in human cells.

283 ed three PMOs to selectively target expanded CAG repeat tracts (CTG22, CTG25 and CTG28), and two PMOs

284 Longer CAG repeat tracts are associated with earlier ages at on

285 previously shown that transcription through CAG repeat tracts destabilizes them in a way that depend

286 ng a selection assay based on contraction of CAG repeat tracts in human cells, we screened the Prestw

287 .DNA hybrids enhances the instability of CTG.CAG repeat tracts.

288 n can promote repeat expansion, using (CTG)*(CAG) repeat tracts in the size range that is typical for

289 transgene locus driving the expression of a CAG repeat transcript (HDL2-CAG) from the strand antisen

290 The length of the CAG repeat was positively correlated with a more rapid I

291 ygous DCTN1 p.T54I, FUS p.P431L, and HTT (42 CAG repeats) were identified as pathogenic mutations.

292 gh HD pathogenesis is driven by the expanded CAG repeat, whether the mutation influences the expressi

293 ypical +1 shift site, UUC C at the 5' end of CAG repeats, which has some resemblance to the influenza

294 gs indicate that the number of uninterrupted CAG repeats, which is lengthened by the LOI, is the most

295 corrected by the replacement of the expanded CAG repeat with a normal repeat using homologous recombi

296 s disease (HD), which are caused by expanded CAG repeats within an allele of the ataxin-3 (ATXN3) and

297 tion by blocking the detrimental activity of CAG repeats within HTT mRNA.

298 HD and MJD are caused by an expansion of CAG repeats within one mRNA allele encoding huntingtin (

299 ession by ss-siRNAs that target the expanded CAG repeats within the mutant allele.

300 a yeast artificial chromosome containing 128 CAG repeats (YAC128) with low-dose memantine blocks extr