Academic literature on the topic 'Maladies mitochondriale'
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Journal articles on the topic "Maladies mitochondriale"
Bastin, Jean, and Fatima Djouadi. "Anomalies de la β-oxydation mitochondriale des acides gras." médecine/sciences 35, no. 10 (October 2019): 779–86. http://dx.doi.org/10.1051/medsci/2019156.
Full textPettazzoni, Magali, Fanny Zhao, Céline Renoux, and David Cheillan. "Le dépistage néonatal de maladies génétiques en France." Revue de biologie médicale N° 370, no. 1 (January 1, 2023): 49–59. http://dx.doi.org/10.3917/rbm.370.0049.
Full textCayre, Myriam. "La photobiomodulation : mise en lumière d’une thérapie non médicamenteuse et de ses applications possibles en neurologie." Hegel Vol. 14, no. 3 (October 8, 2024): 253–72. http://dx.doi.org/10.3917/heg.143.0253.
Full textD’Urso, Baptiste, Robert Weil, and Pierre Génin. "L’optineurine et les dysfonctionnements mitochondriaux dans la neurodégénérescence." médecine/sciences 40, no. 2 (February 2024): 167–75. http://dx.doi.org/10.1051/medsci/2023220.
Full textSharma, Priyanka, and Harini Sampath. "Mitochondrial DNA Integrity: Role in Health and Disease." Cells 8, no. 2 (January 29, 2019): 100. http://dx.doi.org/10.3390/cells8020100.
Full textLessard, Lola, Laure Gallay, and Rémi Mounier. "Altérations métaboliques dans la dystrophie myotonique de type I." médecine/sciences 40 (November 2024): 40–44. http://dx.doi.org/10.1051/medsci/2024129.
Full textLombès, Anne, Karine Auré, and Claude Jardel. "Physiopathologie des maladies mitochondriales." Biologie Aujourd'hui 209, no. 2 (2015): 125–32. http://dx.doi.org/10.1051/jbio/2015014.
Full textEl Sabbagh, S., A. S. Lebre, N. Bahi-Buisson, P. Delonlay, C. Soufflet, N. Boddaert, M. Rio, et al. "Épilepsie et maladies mitochondriales." Archives de Pédiatrie 18, no. 5 (May 2011): H132—H133. http://dx.doi.org/10.1016/s0929-693x(11)71003-x.
Full textJardel, Claude, and Benoît Rucheton. "Diagnostic des maladies mitochondriales." Revue Francophone des Laboratoires 2018, no. 501 (April 2018): 36–48. http://dx.doi.org/10.1016/s1773-035x(18)30119-9.
Full textLipper, Colin H., Jason T. Stofleth, Fang Bai, Yang-Sung Sohn, Susmita Roy, Ron Mittler, Rachel Nechushtai, José N. Onuchic, and Patricia A. Jennings. "Redox-dependent gating of VDAC by mitoNEET." Proceedings of the National Academy of Sciences 116, no. 40 (September 16, 2019): 19924–29. http://dx.doi.org/10.1073/pnas.1908271116.
Full textDissertations / Theses on the topic "Maladies mitochondriale"
Legros, Frédéric. "Étude de la dynamique du compartiment mitochondrial et des mutations hétéroplasmiques de l'ADN mitochondrial." Paris 7, 2002. http://www.theses.fr/2002PA077109.
Full textBerg, Alonso Laetitia. "Déficits de la chaîne respiratoire mitochondriale avec instabilité de l’ADN mitochondrial : identification de nouveaux gènes et mécanismes." Thesis, Université Côte d'Azur (ComUE), 2016. http://www.theses.fr/2016AZUR4101/document.
Full textNon communiqué
Berg, Alonso Laetitia. "Déficits de la chaîne respiratoire mitochondriale avec instabilité de l’ADN mitochondrial : identification de nouveaux gènes et mécanismes." Electronic Thesis or Diss., Université Côte d'Azur (ComUE), 2016. http://www.theses.fr/2016AZUR4101.
Full textNon communiqué
Aure, Karine. "Physiopathologie moléculaire et cellulaire des maladies mitochondriales à présentation neurologique." Paris 6, 2007. http://www.theses.fr/2007PA066281.
Full textBeinat, Marine. "Caractérisation génétique des atteintes hépatiques mitochondriales." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T007/document.
Full textGenetic characterization of mitochondrial liver damage
Damiano, Maria. "Rôle de la dysfonction mitochondriale dans deux maladies neurodégénératives, la Maladie de Huntington et la Maladie de Parkinson." Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066584/document.
Full textMitochondrial dysfunction has been implicated in several neurodegenerative diseases and is correlated with augmented levels of intracellular oxydant stress. The mitochondrial defects observed in tissues from patients, as well as in animal and cellular models of Huntington’s and Parkinson’s diseases, suggest the implication of mitochondria in the pathogenesis of these diseases. The two projects discussed in this manuscript focus on the role of particular aspects of mitochondrial physiology in these diseases. By the first project we show the role of defective mitochondrial respiratory chain compex II in several rodent models of Huntington’s disease. By using a lentivirus-based gene transfert strategy we highlight the neuroprotective potential of the striatal overexpression of the subunits of complex II. The second project focus on Parkin and PINK1, two proteins implicated in the autosomal recessive, hereditary forms of Parkinson’s disease and in mitochondrial quality control mechanisms, such as mitophagy. In a cellular model we show that the two proteins facilitate Drp1-dependent mitochondrial fission. We show that Parkin may facilitate the signaling pathways controlling the activity of the pro-fission protein Drp1. This effect is probably indirect and mostly PINK1-independent. On the contrary, in mitochondrial depolarization conditions, by FRET (Förster Resonance Energy Transfer) a direct spatial coordination of Parkin, PINK1 and Drp1 is observed, which seems to be determinant for the efficiency of mitophagy. My projects shed new light on pathogenic mechanisms and open new perspectives in the research on these diseases
Rouzier, Cécile. "Déficits de la chaîne respiratoire mitochondriale avec instabilité de l'ADN mitochondrial : identification de nouveaux gènes et mécanismes." Nice, 2012. http://www.theses.fr/2012NICE4066.
Full textLefevre, Sophie. "Modèle levure de l'ataxie de Friedreich : stress oxydant, apoptose et dynamique mitochondriale." Paris 6, 2010. http://www.theses.fr/2010PA066204.
Full textGilleron, Mylène. "Complexité des maladies mitochondriales : à partir de deux exemples." Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066136/document.
Full textMitochondrial diseases represent a very diverse set of pathologies. With this work, I approached their complexity in two different situations: phenotypic analysis of fibroblasts derived from patients with defects of the respiratory complex III and phenotypic analysis of a cohort of patients, the POLG gene of whom had been sequenced. The complex III plays a central role in the mitochondrial respiratory chain. Contrary to its complete biochemical characterization, its physiological role has been relatively poorly established. We selected 15 patients with complex III defect in liver and/or muscle and with fibroblasts expressing a respiratory defect. The genetic origin was initially known for four of these defects (UQCRB, BCS1L x2, MT- CYB) and during this project, we were able to identify three additional cases (CYC1, MT- CYB, LYRM7). We sought to assess the existence of a link between the disease phenotype and the defect characteristics: gene involved, tissue expression and cellular responses. Our population of fibroblasts, genetically heterogeneous, turned also to be diverse with respect to the biochemical and cellular consequences of the defect. A "typical" profile of complex III defect therefore does not seem to exist. Pathologies related to POLG mutations are often considered the most common mitochondrial diseases in adults. Their clinical presentation is very diverse. We have investigated the specificity and sensitivity of different clinical and biological signs considered as suggestive for POLG mutations and therefore leading to POLG sequencing. To that purpose, we retrospectively analyzed the clinical phenotype and mitochondrial investigations in 154 patients for which POLG had been sequenced revealing mutations affecting two alleles of the gene in 34 patients, one allele for 10 patients and a normal sequence for 110 patients. This study has shown that POLG mutations were responsible of recurrent clinical and paraclinical signs, whose sensitivity and specificity when considered in association allowed to propose a diagnostic flowchart for POLG sequencing. This study has also permitted to establish the natural story of diseases associated with deleterious POLG mutations in adults. In conclusion, classification of mitochondrial diseases by a common biochemical abnormality, a complex III defect in the present case, leads to group very different diseases that differ from their clinical, biochemical and cellular patterns. On the contrary, even in diseases considered highly diverse as those due to POLG mutations, classification by the affected gene allows to identify recurrent presentations in a population of adult patients with neurological presentation
Kelly-Aubert, Mairead. "Anomalies de la balance redox mitochondriale dans la mucoviscidose." Paris 6, 2011. http://www.theses.fr/2011PA066027.
Full textBooks on the topic "Maladies mitochondriale"
N, Cohen Georges, and Lestienne Patrick 1950-, eds. Les maladies mitochondriales. Paris: Elsevier, 2001.
Find full textJames, Holt Ian, ed. Genetics of mitochondrial diseases. Oxford: Oxford University Press, 2003.
Find full textEnrique, Cadenas, and Packer Lester, eds. Understanding the process of aging: The roles of mitochondria, free radicals, and antioxidants. New York: Marcel Dekker, 1999.
Find full textScheffler, Immo E. Mitochondria. Wiley & Sons, Incorporated, John, 2011.
Find full textScheffler, Immo E. Mitochondria. Wiley & Sons, Incorporated, John, 2007.
Find full textScheffler, Immo E. Mitochondria. Wiley & Sons, Incorporated, John, 2011.
Find full textScheffler, Immo E. Mitochondria. Wiley & Sons, Incorporated, John, 2003.
Find full textScheffler, Immo E. Mitochondria. Wiley-Liss, 1999.
Find full textScheffler, Immo E. Mitochondria. 2nd ed. Wiley-Liss, 2007.
Find full textScheffler, Immo E. Mitochondria. Wiley & Sons, Incorporated, John, 2007.
Find full textBook chapters on the topic "Maladies mitochondriale"
Friedman, Diane, and Djillali Annane. "Maladie mitochondriale." In Maladies rares en réanimation, 221–30. Paris: Springer Paris, 2010. http://dx.doi.org/10.1007/978-2-287-99070-0_19.
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