Search Results - "Rotig, Agnes"

Mitochondrial double-stranded RNA triggers antiviral signalling in humans by Dhir, Ashish, Dhir, Somdutta, Borowski, Lukasz S., Jimenez, Laura, Teitell, Michael, Rötig, Agnès, Crow, Yanick J., Rice, Gillian I., Duffy, Darragh, Tamby, Christelle, Nojima, Takayuki, Munnich, Arnold, Schiff, Manuel, de Almeida, Claudia Ribeiro, Rehwinkel, Jan, Dziembowski, Andrzej, Szczesny, Roman J., Proudfoot, Nicholas J.

“…Mitochondria are descendants of endosymbiotic bacteria and retain essential prokaryotic features such as a compact circular genome. Consequently, in mammals,…”
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Defective palmitoylation of transferrin receptor triggers iron overload in Friedreich ataxia fibroblasts by Petit, Floriane, Drecourt, Anthony, Dussiot, Michaël, Zangarelli, Coralie, Hermine, Olivier, Munnich, Arnold, Rötig, Agnès

“…Friedreich ataxia (FRDA) is a frequent autosomal recessive disease caused by a GAA repeat expansion in the FXN gene encoding frataxin, a mitochondrial protein…”
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Quantitative Susceptibility Mapping in Woodhouse‐Sakati Syndrome by Hodel, Jérôme, Rötig, Agnès, Munnich, Arnold, Hosseini, Hassan

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Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal by Torraco, Alessandra, Maroofian, Reza, Rötig, Agnès, Bertini, Enrico, Ghezzi, Daniele, Carrozzo, Rosalba, Diodato, Daria

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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders by Bannwarth, Sylvie, Procaccio, Vincent, Lebre, Anne Sophie, Jardel, Claude, Chaussenot, Annabelle, Hoarau, Claire, Maoulida, Hassani, Charrier, Nathanaël, Gai, Xiaowu, Xie, Hongbo M, Ferre, Marc, Fragaki, Konstantina, Hardy, Gaëlle, Mousson de Camaret, Bénédicte, Marlin, Sandrine, Dhaenens, Claire Marie, Slama, Abdelhamid, Rocher, Christophe, Paul Bonnefont, Jean, Rötig, Agnès, Aoutil, Nadia, Gilleron, Mylène, Desquiret-Dumas, Valérie, Reynier, Pascal, Ceresuela, Jennifer, Jonard, Laurence, Devos, Aurore, Espil-Taris, Caroline, Martinez, Delphine, Gaignard, Pauline, Le Quan Sang, Kim-Hanh, Amati-Bonneau, Patrizia, Falk, Marni J, Florentz, Catherine, Chabrol, Brigitte, Durand-Zaleski, Isabelle, Paquis-Flucklinger, Véronique

“…Mitochondrial DNA (mtDNA) diseases are rare disorders whose prevalence is estimated around 1 in 5000. Patients are usually tested only for deletions and for…”
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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies by Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva

“…Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of…”
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Mouse models for mitochondrial diseases by Ruzzenente, Benedetta, Rötig, Agnès, Metodiev, Metodi D

“…Mitochondrial diseases are heterogeneous and incurable conditions typically resulting from deficient ATP production in the cells. Mice, owing to their genetic…”
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A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases by Chatzovoulou, Kalliopi, Mayeur, Anne, Cagnard, Nicolas, Zarhrate, Mohammed, Bole, Christine, Nitschke, Patrick, Jabot-Hanin, Fabienne, Rötig, Agnès, Monnot, Sophie, Munnich, Arnold, Frydman, Nelly, Steffann, Julie

“…Abstract STUDY QUESTION Does mitochondrial deficiency affect human embryonic preimplantation development? SUMMARY ANSWER The presence of a pathogenic…”
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OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution by Elachouri, Ghizlane, Vidoni, Sara, Zanna, Claudia, Pattyn, Alexandre, Boukhaddaoui, Hassan, Gaget, Karen, Yu-Wai-Man, Patrick, Gasparre, Giuseppe, Sarzi, Emmanuelle, Delettre, Cécile, Olichon, Aurélien, Loiseau, Dominique, Reynier, Pascal, Chinnery, Patrick F, Rotig, Agnès, Carelli, Valerio, Hamel, Christian P, Rugolo, Michela, Lenaers, Guy

“…Eukaryotic cells harbor a small multiploid mitochondrial genome, organized in nucleoids spread within the mitochondrial network. Maintenance and distribution…”
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Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement by Pulman, Juliette, Ruzzenente, Benedetta, Bianchi, Lucas, Rio, Marlène, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Metodiev, Metodi D

“…Abstract Mitochondria contain a dedicated translation system, which is responsible for the intramitochondrial synthesis of 13 mitochondrial DNA (mtDNA)-encoded…”
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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy by Galmiche, Louise, Serre, Valérie, Beinat, Marine, Assouline, Zahra, Lebre, Anne-Sophie, Chretien, Dominique, Nietschke, Patrick, Benes, Vladimir, Boddaert, Nathalie, Sidi, Daniel, Brunelle, Francis, Rio, Marlène, Munnich, Arnold, Rötig, Agnès

“…By combining exome sequencing in conjunction with genetic mapping, we have identified the first mutation in large mitochondrial ribosomal protein MRPL3 in a…”
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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation by Drecourt, Anthony, Babdor, Joël, Dussiot, Michael, Petit, Floriane, Goudin, Nicolas, Garfa-Traoré, Meriem, Habarou, Florence, Bole-Feysot, Christine, Nitschké, Patrick, Ottolenghi, Chris, Metodiev, Metodi D., Serre, Valérie, Desguerre, Isabelle, Boddaert, Nathalie, Hermine, Olivier, Munnich, Arnold, Rötig, Agnès

“…Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous condition characterized by progressive dystonia with iron accumulation in…”
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy by Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique

“…MDH2 encodes mitochondrial malate dehydrogenase (MDH), which is essential for the conversion of malate to oxaloacetate as part of the proper functioning of the…”
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A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders by Steffann, Julie, Monnot, Sophie, Magen, Maryse, Assouline, Zahra, Gigarel, Nadine, Ville, Yves, Salomon, Laurent, Bessiere, Bettina, Martinovic, Jelena, Rötig, Agnès, Bengoa, Joana, Borghèse, Roxana, Munnich, Arnold, Barcia, Giulia, Bonnefont, Jean-Paul

“…Prenatal diagnosis of mitochondrial DNA (mtDNA) disorders is challenging due to potential instability of fetal mutant loads and paucity of data connecting…”
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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases by Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine

“…Hearing loss and visual impairment in childhood have mostly genetic origins, some of them being related to sensorial neuronal defects. Here, we report on eight…”
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Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations by Roux, Charles-Joris, Barcia, Giulia, Schiff, Manuel, Sissler, Marie, Levy, Raphaël, Dangouloff-Ros, Volodia, Desguerre, Isabelle, Edvardson, Shimon, Elpeleg, Orli, Rötig, Agnès, Munnich, Arnold, Boddaert, Nathalie

“…Mitochondrial aminoacyl-tRNA synthetases—encoded by ARS2 genes—are evolutionarily conserved enzymes that catalyse the attachment of amino acids to their…”
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Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells by Pulman, Juliette, Ruzzenente, Benedetta, Horak, Martin, Barcia, Giulia, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Metodiev, Metodi D.

“…Most mitochondrial proteins are synthesized in the cytosol and targeted to mitochondria via N-terminal mitochondrial targeting signals (MTS) that are…”
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Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival by Barcia, Giulia, Rio, Marlène, Assouline, Zahra, Zangarelli, Coralie, Roux, Charles-Joris, de Lonlay, Pascale, Steffann, Julie, Desguerre, Isabelle, Munnich, Arnold, Bonnefont, Jean-Paul, Boddaert, Nathalie, Rötig, Agnès, Metodiev, Metodi D, Ruzzenente, Benedetta

“…Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for…”
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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis by Gusic, Mirjana, Schottmann, Gudrun, Feichtinger, René G., Du, Chen, Scholz, Caroline, Wagner, Matias, Mayr, Johannes A., Lee, Chae-Young, Yépez, Vicente A., Lorenz, Norbert, Morales-Gonzalez, Susanne, Panneman, Daan M., Rötig, Agnès, Rodenburg, Richard J.T., Wortmann, Saskia B., Prokisch, Holger, Schuelke, Markus

“…Isolated complex III (CIII) deficiencies are among the least frequently diagnosed mitochondrial disorders. Clinical symptoms range from isolated myopathy to…”
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COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness by Heeringa, Saskia F, Chernin, Gil, Chaki, Moumita, Zhou, Weibin, Sloan, Alexis J, Ji, Ziming, Xie, Letian X, Salviati, Leonardo, Hurd, Toby W, Vega-Warner, Virginia, Killen, Paul D, Raphael, Yehoash, Ashraf, Shazia, Ovunc, Bugsu, Schoeb, Dominik S, McLaughlin, Heather M, Airik, Rannar, Vlangos, Christopher N, Gbadegesin, Rasheed, Hinkes, Bernward, Saisawat, Pawaree, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, Vanessa, Giorgi, Gianpietro, Prokisch, Holger, Rötig, Agnès, Nürnberg, Gudrun, Becker, Christian, Wang, Su, Ozaltin, Fatih, Topaloglu, Rezan, Bakkaloglu, Aysin, Bakkaloglu, Sevcan A, Müller, Dominik, Beissert, Antje, Mir, Sevgi, Berdeli, Afig, Varpizen, Seza, Zenker, Martin, Matejas, Verena, Santos-Ocaña, Carlos, Navas, Placido, Kusakabe, Takehiro, Kispert, Andreas, Akman, Sema, Soliman, Neveen A, Krick, Stefanie, Mundel, Peter, Reiser, Jochen, Nürnberg, Peter, Clarke, Catherine F, Wiggins, Roger C, Faul, Christian, Hildebrandt, Friedhelm

“…Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of end-stage renal failure. Identification of single-gene causes of SRNS has generated some…”
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