Добірка наукової літератури з теми "Correction génique (CRISPR/Cas9)"
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Статті в журналах з теми "Correction génique (CRISPR/Cas9)":
Jordan, Bertrand. "CRISPR-Cas9, une nouvelle donne pour la thérapie génique." médecine/sciences 31, no. 11 (November 2015): 1035–38. http://dx.doi.org/10.1051/medsci/20153111018.
Cheng, Hao, Feng Zhang, and Yang Ding. "CRISPR/Cas9 Delivery System Engineering for Genome Editing in Therapeutic Applications." Pharmaceutics 13, no. 10 (October 9, 2021): 1649. http://dx.doi.org/10.3390/pharmaceutics13101649.
Yun, Yeomin, and Yoon Ha. "CRISPR/Cas9-Mediated Gene Correction to Understand ALS." International Journal of Molecular Sciences 21, no. 11 (May 27, 2020): 3801. http://dx.doi.org/10.3390/ijms21113801.
Walther, Johanna, Danny Wilbie, Vincent S. J. Tissingh, Mert Öktem, Heleen van der Veen, Bo Lou, and Enrico Mastrobattista. "Impact of Formulation Conditions on Lipid Nanoparticle Characteristics and Functional Delivery of CRISPR RNP for Gene Knock-Out and Correction." Pharmaceutics 14, no. 1 (January 17, 2022): 213. http://dx.doi.org/10.3390/pharmaceutics14010213.
Men, Ke, Xingmei Duan, Zhiyao He, Yang Yang, Shaohua Yao, and Yuquan Wei. "CRISPR/Cas9-mediated correction of human genetic disease." Science China Life Sciences 60, no. 5 (May 2017): 447–57. http://dx.doi.org/10.1007/s11427-017-9032-4.
Hainzl, S., P. Peking, T. Kocher, E. M. Murauer, F. Larcher, M. del Río, B. G. Duarte, et al. "185 CRISPR/Cas9 mediated gene correction of COL7A1." Journal of Investigative Dermatology 137, no. 10 (October 2017): S224. http://dx.doi.org/10.1016/j.jid.2017.07.182.
Hanafy, Amira Sayed, Susanne Schoch, and Alf Lamprecht. "CRISPR/Cas9 Delivery Potentials in Alzheimer’s Disease Management: A Mini Review." Pharmaceutics 12, no. 9 (August 25, 2020): 801. http://dx.doi.org/10.3390/pharmaceutics12090801.
Jo, Dong Hyun, Dong Woo Song, Chang Sik Cho, Un Gi Kim, Kyu Jun Lee, Kihwang Lee, Sung Wook Park, et al. "CRISPR-Cas9–mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis." Science Advances 5, no. 10 (October 2019): eaax1210. http://dx.doi.org/10.1126/sciadv.aax1210.
Atmanli, Ayhan, Andreas C. Chai, Miao Cui, Zhaoning Wang, Takahiko Nishiyama, Rhonda Bassel-Duby, and Eric N. Olson. "Cardiac Myoediting Attenuates Cardiac Abnormalities in Human and Mouse Models of Duchenne Muscular Dystrophy." Circulation Research 129, no. 6 (September 3, 2021): 602–16. http://dx.doi.org/10.1161/circresaha.121.319579.
Luo, Yumei, Detu Zhu, Zhizhuo Zhang, Yaoyong Chen, and Xiaofang Sun. "Integrative Analysis of CRISPR/Cas9 Target Sites in the HumanHBBGene." BioMed Research International 2015 (2015): 1–9. http://dx.doi.org/10.1155/2015/514709.
Дисертації з теми "Correction génique (CRISPR/Cas9)":
Rabai, Aymen. "Correction de l'ADN in vitro et in vivo comme thérapie personnalisée pour les myopathies congénitales." Thesis, Strasbourg, 2018. http://www.theses.fr/2018STRAJ117.
Genome editing with the CRISPR/Cas9 technology has emerged recently as a potential strategy for therapy in genetic diseases. For dominant mutations linked to gain-of-function effects, allele-specific correction may be the most suitable approach. Here we tested allele-specific inactivation or correction of a heterozygous mutation in the Dynamin 2 (DNM2) gene causing the autosomal dominant form of centronuclear myopathies (CNM). Truncated single guide RNAs targeting specifically the mutated allele were tested on cells derived from a mouse model and patients. The mutated allele was successfully targeted in patient fibroblasts and Dnm2R465W/+ mouse myoblasts, and clones were obtained with both precise genome correction or inactivation. Dnm2R465W/+ myoblasts showed an alteration in transferrin uptake and autophagy. Specific inactivation or correction of the mutated allele rescued these phenotypes. The mutated allele was also successfully targeted in Dnm2R465W/+ mouse muscles. These findings illustrate the potential of CRISPR/Cas9 to target and correct heterozygous point mutations leading to a gain-of-function effect in an allele-specific manner
Rabai, Aymen. "Correction de l'ADN in vitro et in vivo comme thérapie personnalisée pour les myopathies congénitales." Electronic Thesis or Diss., Strasbourg, 2018. http://www.theses.fr/2018STRAJ117.
Genome editing with the CRISPR/Cas9 technology has emerged recently as a potential strategy for therapy in genetic diseases. For dominant mutations linked to gain-of-function effects, allele-specific correction may be the most suitable approach. Here we tested allele-specific inactivation or correction of a heterozygous mutation in the Dynamin 2 (DNM2) gene causing the autosomal dominant form of centronuclear myopathies (CNM). Truncated single guide RNAs targeting specifically the mutated allele were tested on cells derived from a mouse model and patients. The mutated allele was successfully targeted in patient fibroblasts and Dnm2R465W/+ mouse myoblasts, and clones were obtained with both precise genome correction or inactivation. Dnm2R465W/+ myoblasts showed an alteration in transferrin uptake and autophagy. Specific inactivation or correction of the mutated allele rescued these phenotypes. The mutated allele was also successfully targeted in Dnm2R465W/+ mouse muscles. These findings illustrate the potential of CRISPR/Cas9 to target and correct heterozygous point mutations leading to a gain-of-function effect in an allele-specific manner
Martineau, Sabrina. "Etude des mécanismes moléculaires de l'épidermolyse bulleuse simple à partir de cellules souches humaines induites à la pluripotence." Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASQ020.
Epidermolysis bullosa simplex (EBS) is a skin disorder caused mainly by dominant mutations in genes coding for keratin 5 (KRT5) or 14 (KRT14) genes. It is characterized by the presence of blisters caused by epidermal detachment, and by other complications such as cutaneous inflammation. From a genetic point of view, the mutations will alter the assembly of the keratin intermediate filament network in basal keratinocytes of the epidermis, leading to cell cytolysis and the formation of intra-epidermal blisters. Currently no effective therapeutic approach it is available. Understanding of the disease and the development of therapies have been hampered by the lack and limitations of relevant human cell and mouse models.So, the general aim of my thesis was to exploit the properties of human induced pluripotent stem cells (hiPSc) to modelling EBS. For this purpose, we generate hiPSc-derived keratinocytes from EBS patients carrying KRT5 mutations (Ker-EBS), and from healthy patients (Ker-WT). Comparison of Ker-EBS and Ker-WT enabled to show that Ker-EBS recapitulates the main phenotypes associated with EBS, namely decreased cell proliferation, increased cell migration, altered signalling pathways (ERK and JNK), as well as aggregates of intermediate keratin filaments in the cytoplasm, as observed in primary EBS keratinocytes. These results demonstrate that our hiPSc-derived cell model is relevant for study EBS.In order to identify new molecular mechanisms, a trancriptomic analysis comparing Ker-EBS with Ker-WT revealed 138 deregulated genes, revealing an enrichment in processes linked to the extracellular matrix, DNA packaging and the inflammatory response. As the inflammatory component in EBS has been poorly described, my next step was to study the pro-inflammatory cytokine phenotype. Thus, we were able to demonstrate increased expression of IL-1α, IL-1β, IL-6, IL-8 (CXCL8), CXCL5, CXCL10, CXCL11, CCL5 in Ker-EBS, at RNA level under basal or IFNy-stimulated conditions to mimic a pro-inflammatory context. Only the chemokines CXCL10 and CXCL11 are secreted at high concentrations in the culture supernatants of stimulated and unstimulated Ker-EBS, demonstrating the involvement of these cytokines in EBS.In parallel, in order to avoid biases due to genetic background, gender, patient age and epigenetics, we generated an isogenic Ker-EBS line (corrected Ker-EBS) using the CRISPR-Cas9 technique. We were thus able to demonstrate that the corrected Ker-EBS line showed a restoration of the expression level of the pro-inflammatory cytokines mentioned above, to a level close to that of Ker-WT, confirming a direct link between mutations in the KRT5 gene and the pro-inflammatory signature.In conclusion, our new cellular model enabled us to reproduce the pathological phenotypes known in the literature, and to demonstrate deregulation of pro-inflammatory cytokine expression in EBS, notably CXCL10 and CXCL11. Taken together, these results make this model a relevant tool to allow a better understanding of the molecular mechanisms associated with the pathology, particularly the inflammatory component, paving the way for new therapeutic approaches
Cullot, Grégoire. "Génotoxicité des systèmes CRISPR-Cas9." Thesis, Bordeaux, 2019. http://www.theses.fr/2019BORD0344.
Gene therapy is a promising therapeutic strategy for the monogenic diseases treatment. If the first approaches, called additive, have relied on the use of viral vectors, a growing share is now turning to gene editing. Less than a decade after its characterization, the CRISPR-Cas9 system has moved gene editing to a clinical stage. However, in the same period of time, several questions have been raised regarding the genotoxicity that can be induced by Cas9. An emerging literature points to the risk of genotoxicity at the targeted site. The thesis work presented here is part of this theme. The first part of the study aimed to describe the genotoxicity induced by a single double-stranded break made by Cas9. Characterization of the effects was done both at the nucleotide level, by monitoring the HDR / InDels balance, but also at the chromosome scale. The monitoring of chromosomal integrity has brought to light a new risk of genotoxicity that was not characterized. A sensitive and specific detection system for this risk has been developed to further characterize it. The second objective was to address the limitations of unwanted genotoxicity by developing a safer and more efficient gene editing method through the use of a single single-stranded breakage by Cas9D10A-nickase
Raas, Quentin. "Inactivation génique des transporteurs ABC peroxysomaux ABCD1 et ABCD2 dans les cellules microgliales BV-2 : étude de la physiopathogenèse de l’adrénoleucodystrophie liée à l’X." Thesis, Bourgogne Franche-Comté, 2018. http://www.theses.fr/2018UBFCI011/document.
X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disorder characterized by very-long-chain fatty acid (VLCFA) accumulation resulting from a peroxisomal β-oxidation defect. The disease is caused by mutations in the ABCD1 gene, which encodes for a peroxisomal half ABC transporter predicted, like its closest homologue ABCD2, to participate in the entry of VLCFA-CoA into the peroxisome, the unique site of their β-oxidation. Progress in understanding the physiopathogenesis of X-ALD suffers from the lack of appropriate cell and animal models. Since peroxisomal defects in microglia seem to be a key element of the onset of the disease, we generated four microglial cell lines unable to transport and/or β-oxidize VLCFA into the peroxisome. BV-2 microglial cells were engineered with CRISPR-Cas9 to generate four microglial cell lines deficient in ABCD1, ABCD2, both ABCD1 and ABCD2 or ACOX-1 (the first rate-limiting enzyme of the peroxisomal β-oxidation system). Biochemical defects and lipid content changes associated with VLCFA accumulation but also fatty acids and cholesterol changes were identified in deficient microglia. Ultrastructural investigations confirmed cytosolic lipid inclusions and an increased number of peroxisome and mitochondria. Transcriptomic profiles of deficient microglia are indicative of an impaired plasticity and an impaired capacity to operate the metabolic shift required upon an inflammatory stimulation. Peroxisomal defect is likely to affect phagocytosis and antigen presentation capacity of microglia. Peroxisomal lipid metabolism defect is also suggested to modify cell membranes organization. Altogether, these novel mutant cell lines represent a promising model that should permit identification of new therapeutic targets for this complex neurodegenerative disease
Prat, Florence. "Les solutions pour prévenir de la génotoxicité du système CRISPR-Cas9." Thesis, Bordeaux, 2020. http://www.theses.fr/2020BORD0322.
CRISPR-Cas9 system has revolutionized genetic world. Nowadays, it is used in various research domains as medicine, agronomy, environment… It is also involved in clinic. However, for a few years, more and more studies have underlined the Cas9 genotoxicity risks. As the first studies focused on the system lack of specificity and on its off-target risks, solutions were brought. Now, new ascertainments emphasize the on-target genotoxic risks. Indeed, non-desired insertions / deletions at the locus in HDR experiments, sequence inversions, large chromosomic truncations were described. The thesis work presented here, aims at finding solutions against these on-target genotoxic risks. In a first time, we have developed solutions in cell lines and hematopoietic stem cells with the nickase system development, and then we have focused on human induced pluripotent stem cells with the use of an allele-specific guide. Finally, we have worked out in sensitive detection genotoxic risks system in immortalized diploid cells to characterized them better. Quality controls must be set up to a correct use of this new biologic revolutionary tool and its limits must be known to controlled them better
Dias, Florencio Leite Gabriella. "Recombinant Adeno-Associated Viruses : process development and gene transfer application for muscular dystrophy." Thesis, Université Paris-Saclay (ComUE), 2017. http://www.theses.fr/2017SACLV051/document.
The interest of recombinant Adeno-Associated Virus (rAAV) vectors for research and clinical purposes in the treatment of genetic diseases have led to the rapid evolution of methods for AAV production in the last two decades (Ayuso et al., 2010). Their broad in vivo biodistribution and long-term efficacy in postmitotic tissues make them good candidates for numerous gene transfer applications. In addition, the specificity of the treatment can be increased when the right serotype is chosen to target a specific tissue. Among the production methods currently in use, tri-transfection of human embryonic kidney 293 (HEK293) cells remains the most popular for research scale; and rAAV production mediated by baculoviruses for larger scales. The increasing importance of viral vectors in the practical application of gene therapy demands the improvement of production processes, especially when it concerns the yields and purity of the final product. My work during these four years was focused in two main points: (1) improve biotechnological processes employed in rAAV production for research and pre-clinical study scales and (2) test in vitro and in vivo the applications for rAAV in the field of genome editing. Gene-editing mediated by engineered nucleases offers new hopes for the treatment of several monogenic inherited diseases. Recently discovered, the CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) Cas9 system provides important tools needed to correct by homology-directed repair mutations. Our canonical model is the mdx mouse, a naturally occurring animal model of Duchenne Muscular Dystrophy (DMD). DMD mutations, which lead to the absence of the protein dystrophin, results in a progressive and fatal myopathy. Several strategies, from pharmacological to exon-skipping strategies, have attempt to revert the phenotype and slow down the disease progress, however results are not yet satisfactory. This new and powerful genome editing tool can be vectorized by rAAV. Results for the first part were published in 2015 and 2016 and will be presented in the form of articles and for the second part I will present preliminary results and perspectives for the work that will be continued in the lab
Girard, Lindsay. "Correction de mutations causant l'épidermolyse bulleuse simplex par recombinaison homologue avec la technologie CRISPR/Cas9." Master's thesis, Université Laval, 2019. http://hdl.handle.net/20.500.11794/35775.
Dib, Carla. "développement d'approches de correction des myoblastes issus de patients atteints de la dystrophie facio-scapulo-humérale." Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLS224.
Facio-Scapulo-Humeral dystrophy is characterized by progressive and asymmetrical muscle weakness. It mainly affects the facial, scapular and humeral muscles. The association of several epigenetic events with three genetic factors of the subtelomeric region of chromosome 4 results in a chromatin organization modification making it permissive to the aberrant expression of genes in the 4q35 region. FSHD myoblasts exhibit differentiation defects in vitro and dysregulations in major pathways such as the cellular response to oxidative stress and myogenic differentiation. The limitations of cell therapy and the complex genetic and epigenetic interplay in FSHD leave it, till now, incurable. However advances in cellular and genetic therapies of myopathies open up new horizons for future applications in the FSHD context. The thesis work is structured around three themes. First, we demonstrate the feasibility of phenotypic and functional correction of FSHD myotubes in vitro by fusing 50% of normal myoblasts with FSHD myoblasts. Next, we evaluate two genomic editing approaches. In the first one, we target the site of attachment of chromosome 4 to the nuclear matrix, FR-MAR with the CTCF protein using the CRISPR / dCas9 system for the purpose of restoring the chromatin organization and the insulating function of FR-MAR. In the second one, we exchange the homologous regions 4q35 and 10q26 by translocation in order to correct the FSHD myoblasts as the three genetic factors of the 4q35 locus are pathogenic only on a genetic background linked to chromosome 4. Finally, we study the role of the oxidative stress in the FSHD
Iyombe, Jean-Paul. "Correction du gène de la dystrophine avec la méthode CRISPR induced deletion (CinDel)." Doctoral thesis, Université Laval, 2019. http://hdl.handle.net/20.500.11794/35026.
Duchenne Muscular Dystrophy (DMD) is an X-linked genetically recessive genetic disorder. It affects 1 boy out of 3500 male births. The boy with the disorder presents walking disorders at the age of 3-4 years and loses it around the age of 11. Death occurs around 18-30 years of age from cardiopulmonary complications. To date, there is no effective cure for this serious disease. We have developed a gene therapy approach called CRISPR-induced deletion (CinDel) to correct the mutated DMD gene. It uses two gRNAs that target the exons preceding and following the deletion responsible for the frame shift. The recognition of the target sites by the two gRNAs allows the recruitment of the Cas9 nuclease, which generates double-strand breaks. The exonic and intronic sequences located between the two cuts are then deleted and the remains of the exons are fused by Non-Homologous End Joining (NHEJ) to produce a hybrid exon and restore the reading frame and to allow the synthesis of the truncated dystrophin with correct SLR structure and heptads. The CinDel approach was used in this project to correct the mutated DMD gene in the myoblasts of a patient with a 51-53 deletion. Exons 50 and 54 were targeted by SpCas9 and two gRNAs and to produce double strand breaks, delete the sequences between the two cleavage sites and produce a hybrid exon 50-54 by NHEJ. This restored the normal reading frame and allowed the expression of truncated dystrophin in the patient's myotubes. The approach also made it possible to correct in vivo the mutated DMD gene in the animal model, the transgenic mouse with a human DMD gene having a deletion of exon 52 (del52hDMD) using an AAV9 viral vector containing the SpCas9 gene and two ARNgs. To verify the location with respect to the sarcolemma of truncated dystrophin with or without a correct SLR structure and heptads, we electroporated the Tibialis anterior muscles of mdx/mdx mice with the plasmids encoding the normal or the truncated dystrophin gene fused with the eGFP gene. The results of this experiment show that truncated and normal dystrophins were well localized under sarcolemma. In order to effectively repress the SpCas9 gene and avoid its prolonged expression that may be the basis of random and unexpected (off-target effects) cuts in the genome, we have developed a method of repression called molecular Hara-Kiri. It uses the CinDel method and consists of targeting two regions of the SpCas9 gene with two gRNAs. Recruiting nuclease allows it to cut its own gene (Hara-Kiri). The sequence between the two cleavage sites is deleted. The residues of the SpCas9 gene are then joined by NHEJ generating a TAA stop codon at the junction point. This approach effectively repressed the SpCas9 gene in vitro and in vivo.
Частини книг з теми "Correction génique (CRISPR/Cas9)":
Reem, Nathan T., and Joyce Van Eck. "Correction to: Application of CRISPR/Cas9-Mediated Gene Editing in Tomato." In Methods in Molecular Biology, C1. New York, NY: Springer New York, 2023. http://dx.doi.org/10.1007/978-1-4939-8991-1_27.
in ’t Groen, Stijn L. M., Mike Broeders, and W. W. M. Pim Pijnappel. "Correction to: CRISPR-Cas9-mediated Gene Editing in Human Induced Pluripotent Stem Cells." In Springer Protocols Handbooks, C3. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-1657-4_26.
Zhang, Yu, Rhonda Bassel-Duby, and Eric N. Olson. "CRISPR-Cas9 Correction of Duchenne Muscular Dystrophy in Mice by a Self-Complementary AAV Delivery System." In Methods in Molecular Biology, 411–25. New York, NY: Springer US, 2022. http://dx.doi.org/10.1007/978-1-0716-2772-3_21.
Barman, Hirendra Nath. "Correction to: CRISPR-Cas9-Mediated Genome Editing in Rice: A Systematic Protocol for Single- and Multi-Target Vector Construction." In Springer Protocols Handbooks, C1. New York, NY: Springer US, 2021. http://dx.doi.org/10.1007/978-1-0716-1657-4_25.
Karapurkar, Janardhan Keshav, Ainsley Mike Antao, Kye-Seong Kim, and Suresh Ramakrishna. "CRISPR-Cas9 based genome editing for defective gene correction in humans and other mammals." In Progress in Molecular Biology and Translational Science, 185–229. Elsevier, 2021. http://dx.doi.org/10.1016/bs.pmbts.2021.01.018.
Тези доповідей конференцій з теми "Correction génique (CRISPR/Cas9)":
Zibert, Andree, Matthias Weiand, Oksana Nadzemova, Jonel Trebicka, and Vanessa Sandfort. "Efficient and precise gene correction of Wilson disease H1069Q mutation in an iPS cell model using CRISPR/Cas9 genome engineering." In 39. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0042-1759922.