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 is implemented in OO perl and is available here: htt

4 GAA maturation increases its affinity for glycogen by 7-

5 GAA peptide vaccination in children with gliomas is gene

6 (GAA)n*(TTC)n repeats were cloned into bacterial plasmids

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

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

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

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

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

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

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

14 ved in GFP reporter construct containing 560 GAA repeats.

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

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

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

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

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

20 nts are homozygous for expanded alleles of a GAA triplet-repeat sequence in the FXN gene.

21 ity of FRDA mutations involve expansion of a GAA*TTC-repeat tract in intron 1, which leads to an FXN

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

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

24 eta-linked polyamide programmed to target a (GAA)3 repeat yielded a CSI microarray-derived sequence m

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

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

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

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

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

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

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

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

33 an deletions as observed for the CTG*CAG and GAA*TTC repeats.

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

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

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

37 he GAA activity in plasma and prevented anti-GAA antibody formation in immunocompetent GAA-knockout m

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

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

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

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

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

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

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

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

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

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

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

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

50 Elderly GAA-KO mice treated with combination therapy demonstrate

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

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

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

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

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

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

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

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

59 (FRDA) patients are homozygous for expanded GAA triplet-repeat alleles in the FXN gene.

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

61 Most FRDA patients have expanded GAA*TTC repeats (up to 1700 triplets), which inhibit the

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

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

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

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

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

67 analyze somatic instability of the expanded GAA triplet-repeat sequence in multiple tissues obtained

68 Thus, somatic instability of the expanded GAA triplet-repeat sequence may contribute directly to d

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

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

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

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

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

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

75 1 in the immediate vicinity of the expanded GAA-TR mutation in FRDA.

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

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

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

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

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

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

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

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

84 utation in Friedreich ataxia is an expanded (GAA*TTC)n sequence, which is highly unstable in human so

85 Friedreich ataxia is caused by an expanded (GAA*TTC)n sequence, which is unstable during intergenera

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 iness of the RNA polymerase within expanded (GAA)n runs but was not accompanied by the enzyme's disso

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

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

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

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

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

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

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

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

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

107 The middle AA pair in the duplex 5'GGU GAA GGCU/PCCG AAG CCG5' rapidly exchanges orientations,

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

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

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

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

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

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

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

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

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

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

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

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

120 that proton transfer from guanidinoacetate (GAA) to Asp-134 and methyl transfer from S-adenosyl-L-me

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

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

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

124 Homozygous GAA trinucleotide repeat expansions in the first intron

125 eich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN

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 ting that liver-specific expression of human GAA with the AAV vector would induce immune tolerance an

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

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

132 acement therapy (ERT) with recombinant human GAA was demonstrated during clinical trials that prolong

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

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

135 ut mice by 6 wk after a challenge with human GAA and Freund's adjuvant; in contrast, administration o

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

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

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

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

140 formed in the proximity of the hyperexpanded GAAs.

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

142 ti-GAA antibody formation in immunocompetent GAA-knockout mice for 18 wk, predicting that liver-speci

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

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

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

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

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

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

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

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

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

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

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

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

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

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

157 ne therapy induced a tolerance to introduced GAA, and this strategy could enhance the efficacy of ERT

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

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

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

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

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

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

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

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

166 insic property of transcription through long GAA.TTC tracts.

167 with the worse cardiac evolution had longer GAA repeats.

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

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

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

171 Mechanistically, GAA promotes FoxO3 nuclear translocation and binding to

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

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

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

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

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

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

178 bust antibody response was provoked in naive GAA-knockout mice by 6 wk after a challenge with human G

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

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

181 Deficiency of GAA causes Pompe disease.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

209 causes extensive RNA.DNA hybrid formation on GAA.TTC templates in bacteria as well as in defined tran

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

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

212 Small pool PCR analysis showed that pure (GAA.TTC)44+ sequences at the FXN locus are unstable in s

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

236 lu) UUC recognizes GAG more efficiently than GAA.

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

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

239 We previously found that GAA-triplet expansions stimulate heterochromatinization

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

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

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

243 The GAA sequence rather than the lysosomal protease environm

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

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

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

247 stores normal histone acetylation around the GAA repeats.

248 administration of the AAV vector before the GAA challenge prevented the antibody response.

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

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

251 ining a liver-specific promoter elevated the GAA activity in plasma and prevented anti-GAA antibody f

252 istone modifications in regions flanking the GAA repeat.

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

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

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

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

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

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

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

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

261 se arrests in the promoter distal end of the GAA.TTC tract and an extensive RNA.DNA hybrid is tightly

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

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

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

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

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

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

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

269 tin modifications proximal and distal to the GAA repeats.

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

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

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

273 effect of DSB repair on instability of the (GAA*TTC)n sequence.

274 a mechanism for genetic instability of the (GAA*TTC)n sequence.

275 a mechanism for genetic instability of the (GAA*TTC)n sequence.

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

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

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

279 fer from S-adenosyl-L-methionine (AdoMet) to GAA are concerted.

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

281 Delta97nsP4 possessing a GDD-to-GAA mutation completely inactivates the enzymatic activi

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

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

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

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

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

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

288 odegenerative disorder caused by an unstable GAA repeat expansion mutation within intron 1 of the FXN

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 hat the increase in genetic instability when GAA serves as the lagging strand template is seen in Rec

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

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

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

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

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

297 degree of frataxin reduction correlates with GAA.TTC tract length, but the mechanism of reduction rem

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.