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| 2. |
- Leclerc, D., et al.
(author)
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Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient
- 2023
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In: Crispr Journal. - : Mary Ann Liebert Inc. - 2573-1599 .- 2573-1602. ; 6:1
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Journal article (peer-reviewed)abstract
- Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in GLB1 gene. These variants result in reduced beta-galactosidase (beta-gal) activity, leading to neurodegeneration associated with premature death. Currently, no effective therapy for GM1 gangliosidosis is available. Three ongoing clinical trials aim to deliver a functional copy of the GLB1 gene to stop disease progression. In this study, we show that 41% of GLB1 pathogenic SNVs can be replaced by adenine base editors (ABEs). Our results demonstrate that ABE efficiently corrects the pathogenic allele in patient-derived fibroblasts, restoring therapeutic levels of beta-gal activity. Off-target DNA analysis did not detect off-target editing activity in treated patient's cells, except a bystander edit without consequences on beta-gal activity based on 3D structure bioinformatics predictions. Altogether, our results suggest that gene editing might be an alternative strategy to cure GM1 gangliosidosis.
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| 3. |
- Cheray, M, et al.
(author)
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Cytosine methylation of mature microRNAs inhibits their functions and is associated with poor prognosis in glioblastoma multiforme
- 2020
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In: Molecular cancer. - : Springer Science and Business Media LLC. - 1476-4598. ; 19:1, s. 36-
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Journal article (peer-reviewed)abstract
- BackgroundLiterature reports that mature microRNA (miRNA) can be methylated at adenosine, guanosine and cytosine. However, the molecular mechanisms involved in cytosine methylation of miRNAs have not yet been fully elucidated. Here we investigated the biological role and underlying mechanism of cytosine methylation in miRNAs in glioblastoma multiforme (GBM).MethodsRNA immunoprecipitation with the anti-5methylcytosine (5mC) antibody followed by Array, ELISA, dot blot, incorporation of a radio-labelled methyl group in miRNA, and miRNA bisulfite sequencing were perfomred to detect the cytosine methylation in mature miRNA. Cross-Linking immunoprecipiation qPCR, transfection with methylation/unmethylated mimic miRNA, luciferase promoter reporter plasmid, Biotin-tagged 3’UTR/mRNA or miRNA experiments and in vivo assays were used to investigate the role of methylated miRNAs. Finally, the prognostic value of methylated miRNAs was analyzed in a cohorte of GBM pateints.ResultsOur study reveals that a significant fraction of miRNAs contains 5mC. Cellular experiments show that DNMT3A/AGO4 methylated miRNAs at cytosine residues inhibit the formation of miRNA/mRNA duplex and leading to the loss of their repressive function towards gene expression. In vivo experiments show that cytosine-methylation of miRNA abolishes the tumor suppressor function of miRNA-181a-5p miRNA for example. Our study also reveals that cytosine-methylation of miRNA-181a-5p results is associated a poor prognosis in GBM patients.ConclusionTogether, our results indicate that the DNMT3A/AGO4-mediated cytosine methylation of miRNA negatively.Graphical abstract
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| 5. |
- Etcheverry, Sebastián, et al.
(author)
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Playing cellular Golf in microstructured fibres
- 2015
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In: Workshop on Specialty Optical Fibers and their Applications, WSOF 2015. - Washington, D.C. : OSA. - 9781943580057
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Conference paper (peer-reviewed)abstract
- We illuminate particles in a solution using fibers with cladding holes. Particles sufficiently near the fiber tip and with the correct optical signature are collected into the holes with good specificity, mimicking cell-collection for diagnostics.
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| 6. |
- Lobov, G. S., et al.
(author)
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Direct birefringence and transmission modulation via dynamic alignment of P3HT nanofibers in an advanced opto-fluidic component
- 2017
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In: Optical Materials Express. - 2159-3930 .- 2159-3930. ; 7:1, s. 52-61
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Journal article (peer-reviewed)abstract
- Poly-3-hexylthiophene (P3HT) nanofibers are semiconducting high-aspect ratio nanostructures with anisotropic absorption and birefringence properties found at different regions of the optical spectrum. In addition, P3HT nanofibers possess an ability to be aligned by an external electric field, while being dispersed in a liquid. In this manuscript we show that such collective ordering of nanofibers, similar to liquid crystal material, significantly changes the properties of transmitted light. With a specially fabricated opto-fluidic component, we monitored the phase and transmission modulation of light propagating through the solution of P3HT nanofibers, being placed in the electric field with strength up to 0.1 V/μm. This report describes a technique for light modulation, which can be implemented in optical fiber-based devices or on-chip integrated components.
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| 7. |
- Sarmiento, S., et al.
(author)
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Continuous-variable quantum key distribution over a 15 km multi-core fiber
- 2022
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In: New Journal of Physics. - : IOP Publishing. - 1367-2630. ; 24:6
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Journal article (peer-reviewed)abstract
- The secure transfer of information is critical to the ever-increasing demands of the digital world. Continuous-variable quantum key distribution (CV-QKD) is a promising technology that can provide high secret key rates over metropolitan areas, using conventional telecom components. In this study, we demonstrate the utilization of CV-QKD over a 15 km multi-core fiber (MCF), in which we take advantage of one core to remotely frequency lock Bob's local oscillator with Alice's transmitter. We also demonstrate the capacity of the MCF to boost the secret key rate by parallelizing CV-QKD across multiple cores. Our results indicate that MCFs are promising for the metropolitan deployment of QKD systems.
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