Littérature scientifique sur le sujet « Neurofibromatose – Thérapeutique »
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Articles de revues sur le sujet "Neurofibromatose – Thérapeutique"
Djoubairou, B., C. Karekezi, N. Moussé, N. El Fatemi, R. Gana, N. El Abbadi et M. Maaqili. « Méningiomes intracrâniens multiples en absence de neurofibromatose : aspect thérapeutique et pronostic ». Neurochirurgie 60, no 6 (décembre 2014) : 352–53. http://dx.doi.org/10.1016/j.neuchi.2014.10.086.
Texte intégralMechiche, Z., S. Saidia, M. Smail, H. Akli, I. Abdelli et A. Hallaci. « Neurofibromatose de type 2 du nourrisson, conduite thérapeutique, à propos d’un cas ». Neurochirurgie 66, no 4 (août 2020) : 308. http://dx.doi.org/10.1016/j.neuchi.2020.06.062.
Texte intégralValeyrie-Allanore, L., P. Combemale, D. Pouessel, S. Culine, D. Hamel-Teillac, Y. Perel, J. Y. Bley et P. Wolkentsein. « Thérapeutiques ciblées dans la neurofibromatose 1 : les premières avancées ». Annales de Dermatologie et de Vénéréologie 139, no 12 (décembre 2012) : B104. http://dx.doi.org/10.1016/j.annder.2012.10.122.
Texte intégralThèses sur le sujet "Neurofibromatose – Thérapeutique"
Aubin, Deborah. « Modélisation pathologique pour la neurofibromatose de Type 1 : développement d’un test d’étude et applications pour la découverte de molécules actives ». Thesis, Université Paris-Saclay (ComUE), 2019. http://www.theses.fr/2019SACLE002/document.
Texte intégralNeurofibromatosis type 1 (NF1) is an autosomal genetic disease with an incidence of 1 in 3,500 individuals. This is a multi-systemic disorder with a plethora of various symptoms. Among with we find neurocutaneous manifestations such as "café-au-lait" spots (zone of localized hyperpigmentation) and neurofibromas (benign tumors of the peripheral sheath of myelin), but also bone defects and cognitive disorders. The penetrance of NF1 is complete but the manifestation and severity of symptoms may vary from one individual to another. The NF1 gene responsible for the disease, located on chromosome 17, is a tumor suppressor gene that encodes neurofibromin. In order to develop a relevant human cellular model for the study of bone defects associated with NF1, we used pluripotency-induced stem cells that carry the NF1 causal mutation (hiPS-NF1). In this work, we have shown that loss of neurofibromin expression in osteoblasts derived from hiPS-NF1 reproduces the reduced osteogenesis phenotype. We have also shown that pharmacological molecules can improve the ability of hiPS-NF1 to differentiate in osteoblast. In order to propose the most relevant human cell model, we have developed isogenic lines with CRISPR / Cas 9 technology to study the impact of a partial or total loss of neurofibromin on the bone phenotype. Simultaneously, a Schwann cells differentiation protocol from hiPS was developed under culture defined using growth factors and signaling molecules. Schwann-like cells were obtained in 30 days by the use of molecules such as the type I receptor TGF-β (SB431542), heregulin β1, IGF1, FGF2 and activator of WNT3a (CHIR99021). The q-PCR analysis shows an increase in Schwann cell markers: neural crest (SOX10, ERBB3), precursor Schwann cells (MPZ, CAD19) and immature Schwann cells (S100). These results were confirmed by protein analysis of the differentiated cells and by the co-culture analysis of these cells with differentiated motoneurons from hiPS. All of this work validated the relevance of pluripotent stem cells in the modeling of genetic pathology
Berabez, Rayan. « Conception et validation préclinique de nouveaux inhibiteurs de LIMK pour le traitement de la Neurofibromatose de type 1 ». Electronic Thesis or Diss., Orléans, 2023. http://www.theses.fr/2023ORLE1070.
Texte intégralNeurofibromatosis type 1 (NF1) is a genetic disease characterized by the development of cutaneous neurofibromas (cNF) (benign tumors) located at nerve endings. LIM kinases (LIMKs), enzymes responsible for cytoskeleton dynamics, have emerged in recent years as valid therapeutic targets for this disease. These enzymes are overactivated in several pathologies including NF1, glioblastoma or osteosarcoma. A medicinal chemistry project was therefore initiated with the aim of designing new selective inhibitors of LIMKs. Initially, structure-activity relationship (SAR) studies were conducted on the 3 main pharmacomodulation sites of the pyrrolopyrimidine-type compounds previously developed by our team. The development of various synthetic strategies was undertaken, allowing efficient access to a large number of final products (84). Optimization of the aniline portion of the compounds led to the synthesis of 49 LIMKs inhibitors, with inhibition constants lower than 5 nM for several derivatives. Subsequently, an optimized 15 steps synthetic route was developed to replace the previously unchanged central ring 3,6-dihydropyridine with a derivative of 1-aminocyclohex-3-ene-1-carboxylic acid. Finally, a new series of inhibitors was developed by replacing the heterocyclic pyrrolo[2,3-d]pyrimidine base by 7-azaindole derivatives. Improved LIMK vs. ROCK selectivity was observed among the 23 obtained products. Following extensive in vitro evaluation of our best inhibitors on several cell lines, two compounds were selected for in vivo trials on an original mouse model of NF1. In parallel, new modes of LIMKs inhibition were developed with the synthesis of an irreversible inhibitor targeting LIMK1, as well as 4 PROTACs that induced LIMKs degradation through the ubiquitin-proteasome system in several cell lines