Detalhe da pesquisa
1.
DNA triplet repeat expansion and mismatch repair.
Annu Rev Biochem
; 84: 199-226, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25580529
2.
S1-END-seq reveals DNA secondary structures in human cells.
Mol Cell
; 82(19): 3538-3552.e5, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36075220
3.
Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.
Hum Mol Genet
; 31(20): 3539-3557, 2022 10 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708503
4.
Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin.
Neurobiol Dis
; 177: 105996, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36638893
5.
Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's Ataxia.
Mol Cell Proteomics
; 20: 100094, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991687
6.
Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression.
Nucleic Acids Res
; 49(20): 11560-11574, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718736
7.
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
J Lipid Res
; 63(9): 100255, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35850241
8.
Distributed measurement of mode group effective refractive index difference in a few mode optical fibers.
Opt Express
; 30(10): 17164-17173, 2022 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221545
9.
Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice.
RNA Biol
; 19(1): 364-372, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289725
10.
Efficient electroporation of neuronal cells using synthetic oligonucleotides: identifying duplex RNA and antisense oligonucleotide activators of human frataxin expression.
RNA
; 25(9): 1118-1129, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151992
11.
Sensitivity tailoring of an all-fiber bend sensor based on a dual-core fiber unbalanced Michelson interferometer.
Opt Express
; 29(24): 39137-39149, 2021 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34809283
12.
Progress towards drug discovery for Friedreich's Ataxia: Identifying synthetic oligonucleotides that more potently activate expression of human frataxin protein.
Bioorg Med Chem
; 28(11): 115472, 2020 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279920
13.
High-resolution distributed shape sensing using phase-sensitive optical time-domain reflectometry and multicore fibers.
Opt Express
; 27(15): 20763-20773, 2019 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31510165
14.
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
Hum Mol Genet
; 24(24): 6932-43, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401053
15.
Cross talk analysis in multicore optical fibers by supermode theory.
Opt Lett
; 41(16): 3759-62, 2016 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519082
16.
Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
Mol Ther
; 23(6): 1055-1065, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25758173
17.
Study on the Sensing Coating of the Optical Fibre CO2 Sensor.
Sensors (Basel)
; 15(12): 31888-903, 2015 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26694412
18.
Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1.
RNA Biol
; 11(6): 742-54, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24824895
19.
Experimental study of dispersion characteristics for a series of microstructured fibers for customized supercontinuum generation.
Opt Express
; 21(6): 7107-17, 2013 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23546092
20.
Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich's ataxia.
Nucleic Acids Res
; 39(19): 8366-77, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21745819