檢索結果 - Delahodde, Agnès

Contribution of ERMES subunits to mature peroxisome abundance 由 Esposito, Michela, Hermann-Le Denmat, Sylvie, Delahodde, Agnès

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Integrity of the Saccharomyces cerevisiae Rpn11 Protein Is Critical for Formation of Proteasome Storage Granules (PSG) and Survival in Stationary Phase 由 Saunier, Rémy, Esposito, Michela, Dassa, Emmanuel P., Delahodde, Agnès

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Activation Domain-dependent Monoubiquitylation of Gal4 Protein Is Essential for Promoter Binding in Vivo 由 Archer, Chase T., Delahodde, Agnes, Gonzalez, Fernando, Johnston, Stephen Albert, Kodadek, Thomas

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Physical and functional association of RNA polymerase II and the proteasome 由 Gillette, Thomas G., Gonzalez, Fernando, Delahodde, Agnes, Johnston, Stephen Albert, Kodadek, Thomas

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Caenorhabditis elegans expressing the Saccharomyces cerevisiae NADH alternative dehydrogenase Ndi1p, as a tool to identify new genes involved in complex I related diseases 由 Cossard, Raynald, Esposito, Michela, Sellem, Carole H., Pitayu, Laras, Vasnier, Christelle, Delahodde, Agnès, Dassa, Emmanuel P.

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Autophagy facilitates mitochondrial rebuilding after acute heat stress via a DRP-1–dependent process 由 Chen, Yanfang, Leboutet, Romane, Largeau, Céline, Zentout, Siham, Lefebvre, Christophe, Delahodde, Agnès, Culetto, Emmanuel, Legouis, Renaud

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Dissection of the Carboxyl-Terminal Domain of the Proteasomal Subunit Rpn11 in Maintenance of Mitochondrial Structure and Function 由 Rinaldi, Teresa, Hofmann, Line, Gambadoro, Alessia, Cossard, Raynald, Livnat-Levanon, Nurit, Glickman, Michael H., Frontali, Laura, Delahodde, Agnès

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A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations 由 di Punzio, Giulia, Di Noia, Maria Antonietta, Delahodde, Agnès, Sellem, Carole, Donnini, Claudia, Palmieri, Luigi, Lodi, Tiziana, Dallabona, Cristina

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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders 由 Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès

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CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures 由 Mollet, Julie, Delahodde, Agnès, Serre, Valérie, Chretien, Dominique, Schlemmer, Dimitri, Lombes, Anne, Boddaert, Nathalie, Desguerre, Isabelle, de Lonlay, Pascale, Ogier de Baulny, Hélène, Munnich, Arnold, Rötig, Agnès

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The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia 由 Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André

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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase 由 Soreze, Yohan, Boutron, Audrey, Habarou, Florence, Barnerias, Christine, Nonnenmacher, Luc, Delpech, Hélène, Mamoune, Asmaa, Chrétien, Dominique, Hubert, Laurence, Bole-Feysot, Christine, Nitschke, Patrick, Correia, Isabelle, Sardet, Claude, Boddaert, Nathalie, Hamel, Yamina, Delahodde, Agnès, Ottolenghi, Chris, de Lonlay, Pascale

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Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies 由 Lasserre, Jean-Paul, Dautant, Alain, Aiyar, Raeka S., Kucharczyk, Roza, Glatigny, Annie, Tribouillard-Tanvier, Déborah, Rytka, Joanna, Blondel, Marc, Skoczen, Natalia, Reynier, Pascal, Pitayu, Laras, Rötig, Agnès, Delahodde, Agnès, Steinmetz, Lars M., Dujardin, Geneviève, Procaccio, Vincent, di Rago, Jean-Paul

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Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish 由 Facchinello, Nicola, Laquatra, Claudio, Locatello, Lisa, Beffagna, Giorgia, Brañas Casas, Raquel, Fornetto, Chiara, Dinarello, Alberto, Martorano, Laura, Vettori, Andrea, Risato, Giovanni, Celeghin, Rudy, Meneghetti, Giacomo, Santoro, Massimo Mattia, Delahodde, Agnes, Vanzi, Francesco, Rasola, Andrea, Dalla Valle, Luisa, Rasotto, Maria Berica, Lodi, Tiziana, Baruffini, Enrico, Argenton, Francesco, Tiso, Natascia

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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases 由 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

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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy 由 Guimier, Anne, Gordon, Christopher T., Godard, François, Ravenscroft, Gianina, Oufadem, Myriam, Vasnier, Christelle, Rambaud, Caroline, Nitschke, Patrick, Bole-Feysot, Christine, Masson, Cécile, Dauger, Stéphane, Longman, Cheryl, Laing, Nigel G., Kugener, Béatrice, Bonnet, Damien, Bouvagnet, Patrice, Di Filippo, Sylvie, Probst, Vincent, Redon, Richard, Charron, Philippe, Rötig, Agnès, Lyonnet, Stanislas, Dautant, Alain, de Pontual, Loïc, di Rago, Jean-Paul, Delahodde, Agnès, Amiel, Jeanne

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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease 由 Thompson, Kyle, Bianchi, Lucas, Rastelli, Francesca, Piron-Prunier, Florence, Ayciriex, Sophie, Besmond, Claude, Hubert, Laurence, Barth, Magalie, Barbosa, Inês A., Deshpande, Charu, Chitre, Manali, Mehta, Sarju G., Wever, Eric J.M., Marcorelles, Pascale, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten G., Chao, Katherine R., Cai, Chunyu, Iannaccone, Susan T., Dean, Andrew F., McFarland, Robert, Vaz, Frédéric M., Delahodde, Agnès, Taylor, Robert W., Rötig, Agnès

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy 由 Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale

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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans 由 Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.

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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy 由 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

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