Tesis sobre el tema "Mitochondriopathies"
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SANGLA, IBAN. "Mitochondriopathies musculaires sans atteinte oculaire". Aix-Marseille 2, 1993. http://www.theses.fr/1993AIX20802.
DI, MARCO JEAN-NOEL. "Le syndrome de kearns-sayre : situation actuelle au sein des mitochondriopathies". Aix-Marseille 2, 1990. http://www.theses.fr/1990AIX20005.
Olichon, Aurélien. "Morphologie mitochondriale : fonctions et dysfonctions de la dynamine humaine OPA1". Toulouse 3, 2004. http://www.theses.fr/2004TOU30295.
Mitochondria are essential organelles that provide energy to the cell and act as reservoirs of apoptogenic molecules. Mitochondrial morphology and dynamics are crucial for their function and their transmission, and drastically change during apoptosis. To explain the dynamic of the mitochondrial network morphology, a model conserved from yeast to human proposes that two antagonistic forces, fission versus fusion, are monitored by proteins localized on the mitochondrial outer membrane, such as Dnm1/DRP-1 or Fzo1/Mfn1-2. Conversely, dynamic of the inner membrane is largely unknown. Data on the large GTPase Msp1 in S. Pombe, OPA1 in human, and Mgm1 in S. Cerevisiae suggest that this dynamin related protein is involved in the inner-membrane structure and dynamic. We have isolated the OPA1 gene sequence encoding a human dynamin. Moreover, we have shown that OPA1 gene is mutated in patients suffering from an hereditary optic neuropathy leading to blindness (ADOA: Autosomal Dominant Optic Atrophy, OMIM 165500) My thesis project was to characterize OPA1 function in order to understand its dysfunction, impact on mitochondrial dynamics and function, and especially answer some questions about the pathological process of the ADOA. Orthology between OPA1 and Msp1 was confirmed by showing that OPA1 complements the lethal msp1 gene deletion in fission yeast. Using both biochemical and cytological approaches we have precisely localized OPA1 strongly associated with the inner membrane of the mitochondria, facing the innermembrane space. To investigate OPA1 dynamin function, we used total or selective downregulation or over-expression of wild type OPA1 variants or mutant, and showed that OPA1 could function in the inner-membrane dynamics and could have a role in structuring the cristae membrane. This later structural role suggests that OPA1 could be a key regulator of the mobilization of cytochrome c by remodeling the cristae membrane
Nouet, Cécile. "Biogenèse des complexes respiratoires mitochondriaux chez la levure S. Cerevisiae et les cellules humaines". Versailles-St Quentin en Yvelines, 2008. http://www.theses.fr/2008VERS0009.
The mitochondrial respiratory chain consists of multimeric complexes composed of subunits encoded by the nuclear and mitochondrial genomes. Its biogenesis requires a fine tuning between nucleus and mitochondria. Several nuclear encoded factors are involved in mitochondrial gene expression and the following assembly of subunits. During my thesis I got interested in three factors involved in respiratory complex biogenesis in the yeast S. Cerevisiae and in human. The Oxa1 protein is involved in co-translational insertion of membrane subunits belonging to several complexes. I studied the role of Oxa1 in human by silencing its expression using RNA interference in fibroblasts. This work and other published data on yeast and human provide a new insight into the role of Oxa1. In addition I isolated the RMD9 gene as a high copy suppressor of an oxa1 mutant in S. Cerevisiae. I showed that Rmd9p controls the stability/maturation of all mitochondrial mRNA encoding respiratory complex subunits. Finally Bcs1, an ATPase belonging to the AAA family is required for assembly of respiratory complex III. In human, mutations in the BCS1L gene are responsible for various pathologies. I performed a structure-function analysis of Bcs1p in S. Cerevisiae. This study reveals three critical regions in the AAA domain. Besides I isolated extragenic suppressors which identification should contribute to a better understanding of Bcs1 function
BONNET, HUGUES. "Rhabdomyolyse familiale et mitochondriopathie". Aix-Marseille 2, 1992. http://www.theses.fr/1992AIX20209.
Heneine, Jana. "Investigating the mitochondrial stress response specific to human dopaminergic neurons : insights into Parkinson’s Disease-associated alterations and contribution of long non-coding RNAs". Electronic Thesis or Diss., Sorbonne université, 2023. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2023SORUS718.pdf.
Mitochondrial dysfunction is known to play a central role in the pathophysiology of Parkinson’s disease. Dopaminergic (DA) neurons of the substantia nigra pars compacta appear particularly vulnerable to mitochondrial stress, leading to their massive degeneration and the occurrence of motor symptoms. The molecular mechanisms underlying this selective susceptibility of human DA neurons remain poorly understood. Furthermore, the search for molecular elements intrinsic to DA neurons has been largely focused on protein-coding genes as of yet. However, there is growing interest in the study of non-coding elements of the genome such as long non-coding RNAs (lncRNAs), potent genomic regulator that display high cell type-and context-specificity. This work centered on the study of the mitochondrial stress response of human DA neurons and the potential contribution of lncRNAs to this response. We first used LUHMES-derived DA neurons to elucidate the specific response of human DA neurons to mitochondrial stress. We demonstrated that inhibiting the mitochondrial electron transport chain led to a significant disruption of mitochondrial homeostasis, resulting in mitochondrial loss. This is supported by a robust induction of mitophagy and a reduction in mitochondrial biogenesis. In addition to these mitochondrial impairments, we observed a stress-induced decline in the maturation status of the DA population and an elevated proportion of apoptotic cells, indicating cellular damage beyond the mitochondrial network. PERK-dependent Unfolded Protein Response of the Endoplasmic Reticulum (UPRER), emerged as a central coordinator of the stress response. It appeared to modulate the inactivation of the mitochondrial UPR (UPRmt) and the cell-specific expression of lncRNAs. The identification of novel lncRNAs, specifically expressed in human DA neurons upon stress, strongly suggests their involvement in the intrinsic molecular mechanisms underlying the DA stress response. We highlight the discovery of a stress-specific lncRNA, lnc-SLC6A15-5, which regulated translation resumption after mitochondrial stress potentially through modulating the expression of ATF4 target genes involved in the mTOR signaling regulation. In a second part, we wished to assess whether this mitochondrial stress response was altered in a PD context, in particular linked to PRKN mutations. For this, we collected transcriptomic data from induced pluripotent stem cells (iPSC)-derived cells from PD patients carrying PRKN mutations and age-matched healthy individuals. Our results suggest that PARKIN deficiency altered cells’ differentiation status, displaying a potential delay in maturity and increase in glial population. The PRKN-mutant cells also appeared “pre-stressed” in basal conditions, as they exhibited activation of effectors of the ATF6- and IRE1-UPRER, as well as the NRF2-dependent antioxidant response. Incubation with mitochondrial toxins expectedly exacerbated these responses, with stronger activation of the three UPRER branches, downstream pro-apoptotic signaling and potential dysregulation of DNA repair mechanisms in PRKN-mutants. Furthermore, we uncovered lncRNAs possibly regulated by PARKIN and potentially involved in neuronal system signaling pathways or mTOR signaling. Further functional experiments will be required to assess whether they may participate to the alterations in differentiation and stress response resulting from PARKIN loss. Our work improved our understanding of the human DA neuron-specific response to mitochondrial dysfunction in the context of PD. We also report valuable information on the potential role of lncRNAs in stress- and disease-associated processes
Lüsebrink, Jessica. "Taurinmangel und Mitochondrienfunktion". Saarbrücken VDM Verlag Dr. Müller, 2008. http://d-nb.info/988823497/04.
Schülke-Gerstenfeld, Markus. "Klinische, biochemische und molekulargenetische Untersuchungen an Kindern mit Mitochondriopathien". [S.l.] : [s.n.], 2002. http://deposit.ddb.de/cgi-bin/dokserv?idn=964717859.
Henkes, Greta. "Neuropathologie primärer und sekundärer Mitochondriopathien im Rahmen entzündlicher Muskelerkrankungen". Doctoral thesis, Universitätsbibliothek Leipzig, 2011. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-71313.
Schülke-Gerstenfeld, Markus. "Klinische, biochemische und molekulargenetische Untersuchungen an Kindern mit Mitochondriopathien". Doctoral thesis, Humboldt-Universität zu Berlin, Medizinische Fakultät - Universitätsklinikum Charité, 2002. http://dx.doi.org/10.18452/13805.
Mitochondria have a crucial role in the energy metabolism of the cell, since they constitute the main place for ATP-production. Defects in the mitochondrial metabolism are associated with a wide spectrum of diseases. Due to their high energy demand brain and muscles are regularly affected (epilepsy, ataxia, myopathy). This work describes the cloning of nuclear encoded genes of complex I of the mitochondrial respiratory chain. The main interest is directed towards the 51 kDa subunit (NDUFV1) since, due to its NADH2-binding domain, it constitutes the entry port into complex I. Therein the first mutations are described, which lead to severe developmental delay, leukencephalopathy and muscular hypotonia in infants. Additionally patients with isolated complex III-deficiency are examined molecularly and are classified according to their clinical symptoms. In one patient isolated complex III deficiency and a mutation in the mitochondrial cytochrome b-gene are associated with septo-optic dysplasia. At the end problems with prenatal diagnosis of mitochondrial diseases and the peculiarities of genetic counselling of affected families are discussed.
Anheier, Maximilian [Verfasser] y M. [Akademischer Betreuer] Deschauer. "Quantifizierung myohistologischer Mitochondrienveränderungen bei Mitochondriopathien / Maximilian Anheier. Betreuer: M. Deschauer". Halle, Saale : Universitäts- und Landesbibliothek Sachsen-Anhalt, 2011. http://d-nb.info/1025301412/34.
Broeker, Carsten [Verfasser] y Richard [Akademischer Betreuer] Warth. "Mitochondriopathien als Ursache des renalen Fanconi-Syndroms / Carsten Broeker. Betreuer: Richard Warth". Regensburg : Universitätsbibliothek Regensburg, 2015. http://d-nb.info/1092188088/34.
Dolly, Adeline. "Cachexie cancéreuse : composition corporelle, structure et métabolisme du muscle squelettique". Thesis, Tours, 2019. http://www.theses.fr/2019TOUR3808.
Cancer cachexia is a multifactorial syndrome characterized by progressive loss of skeletal muscle, leading to decreased quality of life, response to cancer treatments, and patient survival. Due to the physio pathological complexity of this clinical syndrome, there is currently no cure to cancer cachexia.Despite recent discoveries, the mechanisms underlying skeletal muscle wasting are not clearly understood. Recent preclinical and clinical studies highlighted possible alterations in mitochondrial and lipid metabolism. Furthermore, body composition could be affected not only by the tumor, but also by anti-cancer treatments.During this PhD, the aims were to study the links between body composition and bevacizumab-based chemotherapy treatment (clinical study STIC-Avastin (NCT00489697)); or with skeletal muscle structure and metabolism, in the context of cancer cachexia (clinical protocols METERMUCADIG (NCT02573974) and METERMUS-IMC (NCT03027479))
Martinet, Pervenche. "Peau et anomalies de la réparation de l'ADN aux ultraviolets : à propos d'une observation associant dyschromie, syndrome cérébelleux et dysfonctionnement mitochondrial". Aix-Marseille 2, 1994. http://www.theses.fr/1994AIX20831.
Hartmann, Bianca [Verfasser]. "Charakterisierung einer neuen Form der Mitochondriopathie mit funktioneller Analyse des auslösenden mutanten Gens YME1L1. / Bianca Hartmann". Berlin : Freie Universität Berlin, 2017. http://d-nb.info/1141678454/34.
Brinckmann, Anja [Verfasser]. "Untersuchungen zur Pathogenese der Mitochondriopathien anhand ausgesuchter Patienten und eines Mausmodells für den mitochondrialen Komplex I-Mangel / Anja Brinckmann". Berlin : Freie Universität Berlin, 2010. http://d-nb.info/1024105105/34.
Schubert, Kathrin [Verfasser], M. [Akademischer Betreuer] Deschauer, K. [Akademischer Betreuer] Hoffmann y K. G. [Akademischer Betreuer] Claeys. "Molekulargenetische Untersuchung von Patienten mit Mitochondriopathie mittels Sequenzierung des mitochondrialen Genoms / Kathrin Schubert ; M. Deschauer, K. Hoffmann, K. G. Claeys". Halle, 2016. http://d-nb.info/1116954672/34.
COCOMAZZI, PAOLO GIUSEPPE. "THE DOUBLE LIFE OF THE APOPTOSIS INDUCING FACTOR (AIF): THE PRO-VITAL ROLE OF A PRO-DEATH PROTEIN". Doctoral thesis, Università degli Studi di Milano, 2020. http://hdl.handle.net/2434/712701.
Henkes, Greta [Verfasser], Ralf [Akademischer Betreuer] Schober y Christoph [Gutachter] Baerwald. "Neuropathologie primärer und sekundärer Mitochondriopathien im Rahmen entzündlicher Muskelerkrankungen : Neuropathologie primärer und sekundärerMitochondriopathien im Rahmen entzündlicherMuskelerkrankungen / Greta Henkes ; Gutachter: Christoph Baerwald ; Betreuer: Ralf Schober". Leipzig : Universitätsbibliothek Leipzig, 2011. http://d-nb.info/1237894859/34.
Damian, Maxwell Simon, Andreas Hertel, Peter Seibel, Heinz Reichmann, Georg Bachmann, Walter Schachenmayr, Gustav Hoer y Wolfgang Dorndorf. "Follow-Up in Carriers of the ‘MELAS’ Mutation without Strokes". Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2014. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-133386.
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich
Damian, Maxwell Simon, Andreas Hertel, Peter Seibel, Heinz Reichmann, Georg Bachmann, Walter Schachenmayr, Gustav Hoer y Wolfgang Dorndorf. "Follow-Up in Carriers of the ‘MELAS’ Mutation without Strokes". Karger, 1998. https://tud.qucosa.de/id/qucosa%3A26458.
Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.
Schülke-Gerstenfeld, Markus [Verfasser]. "Klinische, biochemische und molekulargenetische Untersuchungen an Kindern mit Mitochondriopathien / von Markus Schülke-Gerstenfeld". 2002. http://d-nb.info/964717859/34.
Henkes, Greta. "Neuropathologie primärer und sekundärer Mitochondriopathien im Rahmen entzündlicher Muskelerkrankungen: Neuropathologie primärer und sekundärerMitochondriopathien im Rahmen entzündlicherMuskelerkrankungen". Doctoral thesis, 2010. https://ul.qucosa.de/id/qucosa%3A11237.