ライフサイエンスコーパス: GAA

1 GAA expansions were evaluated by polymerase chain reacti

2 GAA induces antioxidative response and inhibits accumula

3 GAA maturation increases its affinity for glycogen by 7-

4 GAA peptide vaccination in children with gliomas is gene

5 GAAs for these peptides are EphA2, interleukin (IL)-13 r

6 GAAs were EphA2, interleukin-13 receptor alpha 2 (IL-13R

7 mic DNA were noted with Cervista (P=0.0015), GAA treatment had no significant effects on Aptima HPV s

8 epeats in the frataxin (FXN) gene: every 100 GAA repeats on the smaller repeat allele was associated

9 were linear over ranges of 0.5 to 250microM GAA and 2 to 500microM for creatine.

10 sent in the vector with an approximately 310 GAA repeat expansion (pBAC-FXN-GAA-Luc).

11 Patients with more than 353 GAA repeats on the shorter allele of the FXN locus had a

12 ved in GFP reporter construct containing 560 GAA repeats.

13 s a molecular model of FRDA by inserting 560 GAA*TTC repeats into an intron of a GFP reporter minigen

14 individuals are compound heterozygous for a GAA expansion and a FXN point/insertion/deletion mutatio

15 ed in almost all cases by homozygosity for a GAA trinucleotide repeat expansion in the frataxin gene.

16 Expansion of a GAA . TTC repeat in the first intron of the frataxin (FX

17 FRDA patients, 26 heterozygous carriers of a GAA expansion, and 53 controls underwent oral and intrav

18 Based on the knowledge that a GAA.TTC repeat expansion in the first intron of FXN indu

19 N) that results from low FXN levels due to a GAA triplet repeat expansion or, occasionally, from miss

20 HIN1 bound to a GAA-repeat, Exonic Splicing Enhancer-like RNA motif enri

21 In contrast, the G-met-A (GAA) haplotype probabilities modulated negative associat

22 afirin was dissolved in glacial acetic acid (GAA) and simple coacervation was performed by rapid addi

23 mpounds and identified gossypol acetic acid (GAA) as a potent inhibitor of oxidative stress-induced R

24 s can be facilitated by glacial acetic acid (GAA) treatment of primary liquid-based collections to re

25 cytology processing and glacial acetic acid (GAA) treatment, may occur prior to the arrival of specim

26 thermal properties of guanidinoacetic acid (GAA) and its aqueous solutions have been performed to te

27 us expansion of the guanine-adenine-adenine (GAA) repeats in intron 1 of the FXN gene leading to tran

28 tandards (3 sites, gestational age-adjusted, GAA).

29 T-lymphocyte responses against GAA epitopes were assessed by enzyme-linked immunosorben

30 cific gene subset enriched for AAA, CAA, and GAA codons is impaired in the absence of URM1- and ELP-d

31 for the replacement of G6Pase in GSD Ia and GAA in GSD II (Pompe disease).

32 t tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n, are associated with diseases including myotonic d

33 We demonstrate that introducing anti-GAA duplex RNAs or single-stranded locked nucleic acids

34 analysis in 21 children showed positive anti-GAA immune responses in 13: to IL-13Ralpha2 in 10, EphA2

35 etic peptides for glioma-associated antigen (GAA) epitopes and administration of polyinosinic-polycyt

36 DC1s loaded with glioma-associated antigen (GAA)-derived CTL epitope peptides prolonged the survival

37 fied a series of glioma-associated antigens (GAAs) commonly overexpressed in pediatric gliomas, we in

38 We applied GAA to various chicken NGS assemblies and the results de

39 uences the macroscopic properties of aqueous GAA solutions, but also its bioavailability.

40 Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in

41 implemented as a graph accordance assembly (GAA) program.

42 e FXN locus caused by the disease-associated GAA expansion.

43 to a self-aggregation process that occurs at GAA concentrations higher than 0.013mol.dm(-3).

44 originated from naturally occurring DSBs at (GAA)n microsatellites in Saccharomyces cerevisiae These

45 ion diseases caused by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts.

46 cribe an experimental system to characterize GAA repeat contractions in yeast and to conduct a geneti

47 We previously showed that cloned (GAA*TTC)n sequences replicated in Escherichia coli are m

48 was not dependent on the presence of 12-copy GAA trinucleotide repeats in the promoter region and did

49 rallel and antiparallel protonated d(GA+A).d(GAA):d(TTC) triplexes are stable.

50 the two hybrid duplexes [r(GAA):d(TTC) and d(GAA):r(UUC)] in an R-loop; and three hybrid triplexes th

51 .d(GAA):r(UUC) is unstable, while parallel d(GAA).r(GAA):d(TTC) and d(GA+A).r(GAA):d(TTC) are stable.

52 he collapsed R-loops, antiparallel d(TTC+).d(GAA):r(UUC) is unstable, while parallel d(GAA).r(GAA):d(

53 Elderly GAA-KO mice treated with combination therapy demonstrate

54 orodiamidate morpholino oligomers to enhance GAA exon 2 inclusion in the mature mRNA of patients with

55 Expanded GAA repeats within intron 1 of the frataxin (FXN) gene l

56 Expanded GAA-FXN loci in FRDA patient cells show increased NL loc

57 t common ataxia and results from an expanded GAA repeat in the first intron of FXN.

58 ataxia (FRDA) are homozygous for an expanded GAA triplet repeat (GAA-TR) mutation in intron 1 of the

59 reich ataxia (FRDA) is caused by an expanded GAA triplet-repeat (GAA-TR) mutation in the FXN gene.

60 t inherited ataxia, is caused by an expanded GAA triplet-repeat sequence in intron 1 of the FXN gene.

61 ure and formation of triplex DNA at expanded GAA TTC repeats have been shown to regulate the FXN gene

62 Among 133 patients homozygous for expanded GAA repeats, the mean (SD) age was 31 (10) years (age ra

63 In Friedreich's ataxia (FRDA), expanded GAA repeats in intron 1 of the frataxin gene (FXN) reduc

64 ence of heterochromatin at the long expanded GAA TTC repeats, which is enriched in hypoacetylated his

65 We demonstrate that the presence of expanded GAA repeats recapitulates the epigenetic modifications a

66 We now found that expanded GAA repeats severely block this first replication round

67 a model system, we demonstrate that expanded GAA/TTC repeats represent a threat to eukaryotic genome

68 n the mutation (ie, the size of the expanded GAA repeat).

69 d, and not with the excision of the expanded GAA tract.

70 pressive chromatin spreads from the expanded GAA triplet-repeat sequence to cause epigenetic silencin

71 r objective was to test whether the expanded GAA triplet-repeat sequence undergoes further expansion

72 both upstream and downstream of the expanded GAA triplet-repeat sequence, without any change in trans

73 initiation and elongation from the expanded GAA-FXN locus at single-cell resolution.

74 ive epigenetic modifications at the expanded GAA-FXN locus may lead to NL relocation, where further r

75 pressive chromatin extends from the expanded GAA-TR in intron 1 to the upstream regions of the FXN ge

76 1 in the immediate vicinity of the expanded GAA-TR mutation in FRDA.

77 ing is related to the length of the expanded GAA-TR mutation in FRDA.

78 n FRDA, but its relationship to the expanded GAA-TR mutation remains unclear.

79 eam (R(2) = 0.89, p = 0.002) of the expanded GAA-TR mutation, suggesting that FXN promoter silencing

80 ad of repressive chromatin from the expanded GAA-TR mutation.

81 A is dependent on the length of the expanded GAA-TR mutation.

82 Consistent with the expanded GAA-TR sequence as a cause of variegated gene silencing,

83 om deficient elongation through the expanded GAA-TR sequence because of repeat-proximal heterochromat

84 Expanded (GAA)n repeats in the sense strand for transcription caus

85 disease caused by the presence of expanded (GAA)(n) repeats in the first intron of the FXN gene [V.

86 hile it is generally believed that expanded (GAA)n repeats block transcription elongation, fine mecha

87 We examined instability of the expanded (GAA*TTC)(n) sequence in mammalian cells by analyzing ind

88 mouse and a transgenic line (MTP) expressing GAA only in skeletal muscle, as well as a detailed analy

89 no-associated virus (AAV)9 vector expressing GAA (AAV9-hGAA) into the tibialis anterior muscle of Gaa

90 ere we describe the development of the first GAA-expanded FXN genomic DNA reporter model of FRDA.

91 ulfite sequence analysis of the FXN flanking GAA regions reveals a shift in the FRDA DNA methylation

92 esults, 21.9% reverted to negative following GAA treatment; the correlate value was 2.7% for Aptima H

93 For GAA outcomes, rates of stunting and small-for-gestationa

94 novel series of noniminosugar chaperones for GAA.

95 west measurable m(1) and m(3) enrichment for GAA and creatine, respectively, was 0.3%.

96 ough yeast and reporter construct models for GAA.TTC triplet-repeat expansion have been reported, stu

97 (FoxO3) is further found to be required for GAA-mediated SESN2 expression and RPE survival.

98 Triplex structure-forming GAA/TTC repeats pose a dual threat to the eukaryotic gen

99 Expansion of triplex-forming GAA/TTC repeats in the first intron of FXN gene results

100 These studies suggest that in FRDA, GAA.TTC triplet-repeat instability occurs in embryonic c

101 Data from GAA- and mock-treated specimens generated by Aptima HPV

102 99.2% concordance of Aptima HPV results from GAA-treated and mock-treated specimens was noted.

103 Using a human FXN-GAA-Luciferase repeat expansion genomic DNA reporter mod

104 oximately 310 GAA repeat expansion (pBAC-FXN-GAA-Luc).

105 than xCas9 at AT-rich PAM sites such as GAT, GAA, and CAA.

106 lycogen transport to lysosomes, we generated GAA/Stbd1 double knock-out mice.

107 The GFP_(GAA*TTC)(560) minigene recapitulates the molecular hallm

108 ression, increase the expression of the GFP_(GAA*TTC)(560) reporter.

109 acterized by lack of acid-alpha glucosidase (GAA) resulting in ubiquitous lysosomal glycogen accumula

110 ng lysosomal enzyme acid alpha -glucosidase (GAA) (also called "acid maltase"), causes death in early

111 n-hydrolyzing enzyme acid alpha-glucosidase (GAA) activity, which results in lysosomal glycogen accum

112 er and kidney, while acid alpha-glucosidase (GAA) deficiency in GSD II causes primarily muscle diseas

113 acement therapy with acid alpha-glucosidase (GAA) has achieved only partial efficacy in Pompe disease

114 aded in lysosomes by acid alpha-glucosidase (GAA) in mammals, but it is unclear why and how glycogen

115 Acid alpha-glucosidase (GAA) is a lysosomal enzyme that hydrolyzes glycogen to g

116 the lysosomal enzyme acid alpha-glucosidase (GAA) with recombinant GlcNAc-phosphotransferase and unco

117 ysosomal delivery of acid alpha-glucosidase (GAA), the enzyme deficient in patients with Pompe diseas

118 to the deficiency of acid alpha-glucosidase (GAA), which degrades glycogen in the lysosome.

119 acement therapy with acid alpha-glucosidase (GAA), which has been attributed to inefficient cation-in

120 ng-, mid-, and late-stage alpha-glucosidase (GAA)-deficient mice.

121 the lysosomal enzyme acid alpha-glucosidase (GAA).

122 hment and concentration of guanidinoacetate (GAA) and creatine in plasma sample for kinetic studies i

123 human GAA, processing of bovine and hamster GAA to the 70-kDa form is more rapid.

124 g sequence unaffected and (iii) heterozygous GAA*TTC expansion carriers with approximately 50% decrea

125 Homozygous GAA trinucleotide repeat expansions in the first intron

126 However, GAA.TTC triplet repeats were stable in FRDA fibroblasts

127 Human GAA was fused to the glycosylation-independent lysosomal

128 In the lysosome, human GAA is sequentially processed by proteases to polypeptid

129 Recombinant human GAA (rhGAA) containing the H201L substitution was expres

130 more efficiently than was recombinant human GAA (rhGAA).

131 surrounding the cleavage site revealed human GAA contains histidine at 201 while other species contai

132 In contrast to human GAA, processing of bovine and hamster GAA to the 70-kDa

133 e-mRNA at a region upstream of hyperexpanded GAA repeats in FRDA and control cells, indicating simila

134 ein, we analyze the effects of hyperexpanded GAA repeats on transcription status and chromatin modifi

135 modifications associated with hyperexpanded GAA repeats are independent of initiation and progressio

136 In this region, hyperexpanded GAAs induced a particular constellation of histone modif

137 formed in the proximity of the hyperexpanded GAAs.

138 Taken together, we have identified GAA as a potent inhibitor of oxidative stress-induced RP

139 on, shRNA silencing of MSH2 and MSH6 impeded GAA.TTC triplet-repeat expansion.

140 he lack of effectiveness from clenbuterol in GAA-KO mice that lacked CI-MPR in muscle, where it faile

141 IR showed that when kafirin was dissolved in GAA its alpha-helical conformation increased substantial

142 drugs, which increased CI-MPR expression in GAA knockout (KO) mice.

143 de (Glc4), a urinary biomarker, was lower in GAA-KO mice following combination therapy, compared with

144 Dissociation of the kafirin molecules in GAA, assuming a alpha-helical conformation may have enha

145 urther characterized the role of MutSbeta in GAA.TTC expansion using a functional assay in primary FR

146 of ERT, to prevent the antibody response in GAA-knockout mice.

147 Thus, despite its essential role in GAA.TTC expansion, MSH2 is not an attractive therapeutic

148 RNA.DNA hybrids have a potential role in GAA.TTC tract instability and in the mechanism underlyin

149 tudy demonstrated that knockdown of Stbd1 in GAA knock-out mice did not alter lysosomal glycogen stor

150 th an adeno-associated virus (AAV) vector in GAA-knockout (KO) mice.

151 to bind and thermostabilize GAA and increase GAA translocation to lysosomes in both wild-type and Pom

152 Ectopic expression of MSH2 and MSH3 induced GAA.TTC repeat expansion in the native FXN gene.

153 rited ataxia caused primarily by an intronic GAA.TTC triplet repeat expansion in the frataxin (FXN) g

154 During propagation of the iPSCs, GAA.TTC triplet repeats expanded at a rate of about two

155 e rate of conversion of 76-kDa GAA to 70-kDa GAA.

156 influences the rate of conversion of 76-kDa GAA to 70-kDa GAA.

157 Finally, CI-MPR-KO/GAA-KO mice did not respond to combination therapy, indi

158 In most Friedreich ataxia patients, a large GAA-repeat expansion is present within the first intron

159 riedreich's ataxia (FRDA) is caused by large GAA expansions in intron 1 of the frataxin gene (FXN), w

160 we show increased levels of the full-length GAA transcript, acid-alpha-glucosidase protein, and enzy

161 In model systems, long GAA/TTC tracts also act as chromosomal fragile sites tha

162 with the worse cardiac evolution had longer GAA repeats.

163 reater deficiency in individuals with longer GAA-TR alleles (p < 0.05).

164 Mammalian GAA is synthesized as a precursor of ~110,000 Da that is

165 ) was rapidly converted to the 70-kDa mature GAA.

166 Mechanistically, GAA promotes FoxO3 nuclear translocation and binding to

167 Sestrin2 (SESN2) is found to mediate GAA function in antioxidative response and RPE survival

168 In this model, GAA.TTC repeats expand incrementally and continuously.

169 These moderate GAA inhibitors are shown to bind and thermostabilize GAA

170 SPR analyses using these modified GAAs demonstrate that, unlike the CD-MPR or domain 9 of

171 Many disease-causing mutated GAA retain enzymatic activity but are not translocated f

172 Specifically, (AT)n, (GAA)n and (GAAA)n constitute the most frequent repeats a

173 l size or a rapid turnover rate (or both) of GAA.

174 s most effective, whereas late correction of GAA expression was not effective in modifying parameters

175 Deficiency of GAA causes Pompe disease.

176 n of this GC 5'ss required a high density of GAA/CAA-containing splicing enhancers in the exonized se

177 ethyl)pyrimidine methyl ester derivatives of GAA and creatine, is robust and sensitive.

178 While deleterious effects of GAA treatment on genomic DNA were noted with Cervista (P

179 It was found that isotopic enrichment of GAA reached a plateau by 30min of infusion of [1-(13)C]g

180 is silenced due to an excessive expansion of GAA repeats into its first intron.

181 a (FRDA) is caused by biallelic expansion of GAA repeats leading to the transcriptional silencing of

182 therapeutic target to slow the expansion of GAA.TTC repeats in the future.

183 We found that the rates of expansions of GAA repeats increased exponentially with their lengths.

184 ataxia (FRDA) is caused by hyperexpansion of GAA*TTC repeats located in the first intron of the FXN g

185 ty of an Aptima HPV result is independent of GAA treatment and routine automated cytology processing.

186 Intratumoral injections of GAA peptide-loaded DC1s further enhanced the anti-CNS gl

187 r lysosomal glycogen content to the level of GAA knock-out mice, as did a mutant lacking the Atg8 fam

188 The mechanism by which loss of GAA activity causes cardiomyopathy is poorly understood.

189 We suggest that the mechanism of GAA/TTC-induced chromosomal aberrations defined in yeast

190 e mechanisms that regulate the metabolism of GAA/TTC repeats are poorly understood.

191 anisms can mediate detrimental metabolism of GAA/TTC tracts in human cells.

192 was inversely correlated with the number of GAA repeats in the frataxin (FXN) gene: every 100 GAA re

193 e onset is associated with larger numbers of GAA repeats and more rapid disease progression.

194 Early restoration of GAA activity was most effective, whereas late correction

195 type correction, specifically restoration of GAA to skeletal muscle and the nervous system for treatm

196 were estimated and discussed in the scope of GAA self-aggregation in aqueous solutions using experime

197 ated uptake and intracellular trafficking of GAA during muscle-specific GAA expression with an adeno-

198 ed CI-MPR-mediated uptake and trafficking of GAA in mice with Pompe disease, and a similarly enhanced

199 lenbuterol treatment enhanced trafficking of GAA to lysosomes, given that GAA was expressed within my

200 Here we studied the effects of (GAA)n repeats of varying lengths and orientations on the

201 To follow the effects of (GAA)n*(TTC)n repeats on gene expression, we have chosen

202 Expansions of (GAA)n repeats within the first intron of the frataxin ge

203 lyzing the formation of nucleosome arrays on GAA TTC-containing plasmids, the triplex structure was s

204 One GAA mutation, c.-32-13T > G, impacts upon normal exon 2

205 between Arm 1 and Arm 2 using either NGAA or GAA.

206 brain, cerebellum and heart tissues from our GAA repeat expansion-containing FRDA YAC transgenic mice

207 In somatic tissues of FRDA patients, (GAA)(n) repeat tracts are highly unstable, with contract

208 FXN, there are a number of other polymorphic GAA/TTC loci in the human genome where the size variatio

209 parallel d(GAA).r(GAA):d(TTC) and d(GA+A).r(GAA):d(TTC) are stable.

210 and TTC strands; the two hybrid duplexes [r(GAA):d(TTC) and d(GAA):r(UUC)] in an R-loop; and three h

211 :r(UUC) is unstable, while parallel d(GAA).r(GAA):d(TTC) and d(GA+A).r(GAA):d(TTC) are stable.

212 mozygous for an expanded GAA triplet repeat (GAA-TR) mutation in intron 1 of the FXN gene, which resu

213 is caused by an expanded GAA triplet-repeat (GAA-TR) mutation in the FXN gene.

214 ormation drives a short purine-rich repeat, (GAA)(10), to become a replication impediment that engage

215 A repetitive GAA motif was identified to be an exonic splicing silenc

216 emonstrate that AAV9-hGAA is able to replace GAA to the affected tissue and modify AChR mRNA expressi

217 vely enables transcription across repressive GAA repeats that silence frataxin expression in Friedrei

218 Patients who lack any residual GAA expression and are deemed negative for cross-reactin

219 yperexpansion of the triplet-repeat sequence GAA.TTC within the first intron of the FXN gene.

220 c expansions of the triplet-repeat sequence (GAA.TTC) cause transcriptional repression of the Frataxi

221 Predictors of survival were a shorter GAA repeat length on the smaller allele of the frataxin

222 ion, the DNA sequence of the CudA half site, GAA, is identical to metazoan STAT half sites, although

223 XN gene (pBAC-FXN-Luc) and replacing the six GAA repeats present in the vector with an approximately

224 nt on smaller, so-called 'pre-mutation' size GAA.TTC repeats, that do not cause disease, but are pron

225 hRNA knockdown of either MSH2 or MSH3 slowed GAA.TTC expansion in our system.

226 ar trafficking of GAA during muscle-specific GAA expression with an adeno-associated virus (AAV) vect

227 In this study, GAA TTC repeating DNAs derived from the human FXN gene,

228 yopathy incompletely attenuated by synthetic GAA intravenous infusions.

229 ontain a conserved 10-bp motif (GAAAAG(C)/(T)GAA), and that deletion of these repeats results in a lo

230 The GILT-tagged GAA enzyme may provide an improved enzyme replacement th

231 the lysosome, the mature form of GILT-tagged GAA was indistinguishable from rhGAA and persisted with

232 GILT-tagged GAA was significantly more effective than rhGAA in clear

233 GILT-tagged GAA was taken up by L6 myoblasts about 25-fold more effi

234 because synthetic nucleic acids that target GAA repeats can be lead compounds for restoring curative

235 nd T-cell responses against vaccine-targeted GAA epitopes.

236 nst at least one of the vaccination-targeted GAAs in peripheral blood mononuclear cells in 58% of pat

237 ecific pyrrole-imidazole polyamide targeting GAA.TTC triplet-repeat DNA partially blocked repeat expa

238 lu) UUC recognizes GAG more efficiently than GAA.

239 The fact that GAA repeats affect various replication modes in a differ

240 nd solubility measurements, it is found that GAA is more thermally stable but less soluble comparing

241 We previously found that GAA-triplet expansions stimulate heterochromatinization

242 trafficking of GAA to lysosomes, given that GAA was expressed within myofibers.

243 with and without GAA treatment, we show that GAA treatment significantly reduces genomic DNA content

244 r localization in single cells, we show that GAA-expanded repeats decrease the number of FXN mRNA mol

245 late greatly increases the probability that (GAA)(n) repeats contract, which in turn promotes repeat

246 The GAA sequence rather than the lysosomal protease environm

247 measurements for the GAA TTC duplex and the GAA GAA TTC triplex, and on the effect of histone acetyl

248 NAs derived from the human FXN gene, and the GAA GAA TTC triplex, were examined for their ability to

249 We applied the GAA-expanded reporter model to the screening of a librar

250 stores normal histone acetylation around the GAA repeats.

251 compelling evidence for the link between the GAA expansion, the DNA methylation profile, FXN expressi

252 ndicated that PphnRNP-F1 is recruited by the GAA motif to form RNA-protein complexes.

253 order structure as a fragment containing the GAA-repeat expansion showed an increased interaction fre

254 istone modifications in regions flanking the GAA repeat.

255 Nase I accessibility in regions flanking the GAA repeats in patients was decreased compared with heal

256 oval of the repressed chromatin flanking the GAA tract might contribute to rescue FXN total expressio

257 he first direct binding measurements for the GAA TTC duplex and the GAA GAA TTC triplex, and on the e

258 Pompe disease is caused by mutations in the GAA gene, resulting in deficient lysosomal acid-alpha-gl

259 in CAG.CTG repeat expansion, its role in the GAA.TTC expansion of Friedreich ataxia (FRDA) is less cl

260 lation of specific CpG sites upstream of the GAA repeat and histone modifications in regions flanking

261 promoter, especially in the vicinity of the GAA tract.

262 show age-dependent, further expansion of the GAA triplet-repeat mutation.

263 dent accumulation of large expansions of the GAA triplet-repeat sequence.

264 The expansion of the GAA x TTC tract in intron 1 to as many as 1700 repeats e

265 lines that differ only in the length of the GAA.TTC repeats.

266 to study the mechanism of instability of the GAA.TTC triplet repeats in the human genome.

267 Expansion of the GAA/TTC repeats in the first intron of the FXN gene caus

268 nor the effect of histone acetylation on the GAA TTC duplex or the GAA GAA TTC triplex has been measu

269 one acetylation on the GAA TTC duplex or the GAA GAA TTC triplex has been measured in vitro.

270 ompared to the pUC control DNA) and that the GAA GAA TTC triplex further lowers the nucleosome assemb

271 reconstitution assays demonstrated that the GAA TTC duplex excludes nucleosomes (53% decrease compar

272 his comprehensive analysis revealed that the GAA-induced silencing effect does not influence expressi

273 led with high-throughput sequencing that the GAA-repeat expansion in FRDA cells stimulates a higher-o

274 tin modifications proximal and distal to the GAA repeats.

275 er the gene expression signatures due to the GAA.TTC repeat expansion in FRDA neuronal cells and the

276 othesis is that structures formed within the GAA.TTC repeat during transcription attract DNA repair e

277 scular disorder caused by expansions of the (GAA)n repeat in the first intron of the frataxin gene.

278 hypothesized that genetic stability of the (GAA*TTC)n sequence may require efficient RecA-dependent

279 of replication is known to occur within the (GAA*TTC)n sequence when GAA is the lagging strand templa

280 bitors are shown to bind and thermostabilize GAA and increase GAA translocation to lysosomes in both

281 xon of the B19V pre-mRNA is defined by three GAA motif-containing exonic splicing enhancers and a G/G

282 cimen aliquot for HPV DNA detection prior to GAA treatment.

283 d by a mutant expansion of the trinucleotide GAA within an intronic FXN RNA.

284 rate in vitro and large-scale trinucleotide (GAA)n repeat expansions in vivo, implying failed phospha

285 to analyze large-scale expansions of triplet GAA repeats responsible for the human disease Friedreich

286 plet repeats expanded at a rate of about two GAA.TTC triplet repeats/replication.

287 In a minority of patients, a typical GAA expansion is present in only one FRDA allele, wherea

288 Pompe iPSC-CMs had undetectable GAA activity and pathognomonic glycogen-filled lysosomes

289 Expansion of an unstable GAA.TTC repeat in the first intron of the FXN gene cause

290 When GAA repeats were placed into an intron of the chimeric U

291 ted significantly increased instability when GAA was the lagging strand template in strains that were

292 to occur within the (GAA*TTC)n sequence when GAA is the lagging strand template, we hypothesized that

293 Similarly, when GAA precursor was endocytosed by human Pompe fibroblasts

294 d in Escherichia coli are more unstable when GAA is the lagging strand template, suggesting erroneous

295 ths with NGAA primary outcomes and 1465 with GAA outcomes.

296 e DNA triplexes that could be assembled with GAA and TTC strands; the two hybrid duplexes [r(GAA):d(T

297 age and by 60% at 13 months as compared with GAA knock-out mice, indicating that the transport of gly

298 ilot study of subcutaneous vaccinations with GAA epitope peptides in HLA-A2-positive children with ne

299 med on 465 tandem specimens with and without GAA treatment, we show that GAA treatment significantly

300 rwarded for tandem analysis with and without GAA treatment.