未登录S100A8-mediated metabolic adaptation controls HIV-1 persistence in macrophages in vivo
Real, Fernando; Zhu, Aiwei; Huang, Boxin; Belmellat, Ania; Sennepin, Alexis; Vogl, Thomas; Ransy, Celine; Revol, Marc; Arrigucci, Riccardo; Lombes, Anne; Roth, Johannes; Gennaro, Maria Laura; Bouillaud, Frederic; Cristofari, Sarra; Bomsel, Morgane
分享
收藏Homoplasmic deleterious MT-ATP6/8 mutations in adult patients
Rucheton, Benoit; Jardel, Claude; Filaut, Sandrine; Amador, Maria del Mar; Maisonobe, Thierry; Serre, Isabelle; Romero, Norma Beatriz; Leonard-Louis, Sarah; Haraux, Francis; Lombes, Anne
分享
收藏
分享
收藏Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue
Aure, Karine; Fayet, Guillemette; Chicherin, Ivan; Rucheton, Benoit; Filaut, Sandrine; Heckel, Anne-Marie; Eichler, Julie; Caillon, Florence; Pereon, Yann; Entelis, Nina; Tarassov, Ivan; Lombes, Anne
分享
收藏Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13
Russell, Bianca E.; Whaley, Kaitlin G.; Bove, Kevin E.; Labilloy, Anatalia; Lombardo, Rachel C.; Hopkin, Robert J.; Leslie, Nancy D.; Prada, Carlos; Assouline, Zahra; Barcia, Giulia; Bouchereau, Juliette; Chomton, Maryline; Debray, Dominique; Dorboz, Imen; Durand, Philippe; Gaignard, Pauline; Habes, Dalila; Jardel, Claude; Labarthe, Francois; Levy, Jonathan; Lombes, Anne; Mehler-Jacob, Claire; Melki, Judith; Menvielle, Laura; Munnich, Arnold; Mussini, Charlotte; Pichard, Samia; Rio, Marlene; Rotig, Agnes; Sissaoui, Samira; Slama, Abdelhamid; Miethke, Alexander G.; Schiff, Manuel
分享
收藏MyoNeuroGastroIntestinal Encephalopathy: Natural History and Means for Early Diagnosis
Corazza, Giovanni; Pagan, Cecile; Hardy, Gaelle; Besson, Gerard; Lombes, Anne; Seguy, David; Acquaviva-Bourdain, Cecile; Bouhour, Francoise; Gaignard, Pauline; Slama, Abdelhamid; Roubertie, Agathe; Morales, Raul Juntas; Barth, Magalie; Cintas, Pascal; Bereau, Matthieu; Campana-Salort, Emmanuelle; de Baulny, Helene Ogier; Schiff, Manuel; Benoist, Jean-Francois; Corne, Christelle; Joly, Francisca
分享
收藏Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts
Blazquez-Bermejo, Cora; Carreno-Gago, Lidia; Molina-Granada, David; Aguirre, Josu; Ramon, Javier; Torres-Torronteras, Javier; Cabrera-Perez, Raquel; Angel Martin, Miguel; Dominguez-Gonzalez, Cristina; de la Cruz, Xavier; Lombes, Anne; Garcia-Arumi, Elena; Marti, Ramon; Camara, Yolanda
分享
收藏Mitochondrial stress response triggered by defects in protein synthesis quality control
Richter, Uwe; Ng, Kah Ying; Suomi, Fumi; Marttinen, Paula; Turunen, Taina; Jackson, Christopher; Suomalainen, Anu; Vihinen, Helena; Jokitalo, Eija; Nyman, Tuula A.; Isokallio, Marita A.; Stewart, James B.; Mancini, Cecilia; Brusco, Alfredo; Seneca, Sara; Lombes, Anne; Taylor, Robert W.; Battersby, Brendan J.
分享
收藏Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Ding Wenhong; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; de Coo, Irenaeus F. M.; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; de Meirleir, Linda; Schuelke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang Fang; Freisinger, Peter; Van Coster, Rudy; Strecker, Valentina; Taylor, Robert W.; Haeberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia
分享
收藏
分享
收藏DNA repair deficiency sensitizes lung cancer cells to NAD+ biosynthesis blockade
Touat, Mehdi; Sourisseau, Tony; Dorvault, Nicolas; Chabanon, Roman M.; Garrido, Marlene; Morel, Daphne; Krastev, Dragomir B.; Bigot, Ludovic; Adam, Julien; Frankum, Jessica R.; Durand, Sylvere; Pontoizeau, Clement; Souquere, Sylvie; Kuo, Mei-Shiue; Sauvaigo, Sylvie; Mardakheh, Faraz; Sarasin, Alain; Olaussen, Ken A.; Friboulet, Luc; Bouillaud, Frederic; Pierron, Gerard; Ashworth, Alan; Lombes, Anne; Lord, Christopher J.; Soria, Jean-Charles; Postel-Vinay, Sophie
分享
收藏Mitochondrial MDM2 Regulates Respiratory Complex I Activity Independently of p53
Arena, Giuseppe; Cisse, Madi Yann; Pyrdziak, Samuel; Chatre, Laurent; Riscal, Romain; Fuentes, Maryse; Arnold, Jamie Jon; Kastner, Markus; Gayte, Laurie; Bertrand-Gaday, Christelle; Nay, Kevin; Angebault-Prouteau, Claire; Murray, Kerren; Chabi, Beatrice; Koechlin-Ramonatxo, Christelle; Orsetti, Beatrice; Vincent, Charles; Casas, Francois; Marine, Jean-Christophe; Etienne-Manneville, Sandrine; Bernex, Florence; Lombes, Anne; Cameron, Craig Eugene; Dubouchaud, Herve; Ricchetti, Miria; Linares, Laetitia Karine; Le Cam, Laurent
分享
收藏
分享
收藏
分享
收藏Genetic diagnosis of Mendelian disorders via RNA sequencing
Kremer, Laura S.; Bader, Daniel M.; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B.; Graf, Elisabeth; Schwarzmayr, Thomas; Terrile, Caterina; Konarikova, Eliska; Repp, Birgit; Kastenmueller, Gabi; Adamski, Jerzy; Lichtner, Peter; Leonhardt, Christoph; Funalot, Benoit; Donati, Alice; Tiranti, Valeria; Lombes, Anne; Jardel, Claude; Glaeser, Dieter; Taylor, Robert W.; Ghezzi, Daniele; Mayr, Johannes A.; Roetig, Agnes; Freisinger, Peter; Distelmaier, Felix; Strom, Tim M.; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger
分享
收藏ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
Desai, Radha; Frazier, Ann E.; Durigon, Romina; Patel, Harshil; Jones, Aleck W.; Rosa, Ilaria Dalla; Lake, Nicole J.; Compton, Alison G.; Mountford, Hayley S.; Tucker, Elena J.; Mitchell, Alice L. R.; Jackson, Deborah; Sesay, Abdul; Di Re, Miriam; van den Heuvel, Lambert P.; Burke, Derek; Francis, David; Lunke, Sebastian; McGillivray, George; Mandelstam, Simone; Mochel, Fanny; Keren, Boris; Jardel, Claude; Turner, Anne M.; Andrews, P. Ian; Smeitink, Jan; Spelbrink, Johannes N.; Heales, Simon J.; Kohda, Masakazu; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi; Lombes, Anne; Holt, Ian J.; Thorburn, David R.; Spinazzola, Antonella
分享
收藏Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders
Lorenz, Carmen; Lesimple, Pierre; Bukowiecki, Raul; Zink, Annika; Inak, Gizem; Mlody, Barbara; Singh, Manvendra; Semtner, Marcus; Mah, Nancy; Aure, Karine; Leong, Megan; Zabiegalov, Oleksandr; Lyras, Ekaterini-Maria; Pfiffer, Vanessa; Fauler, Beatrix; Eichhorst, Jenny; Wiesner, Burkhard; Huebner, Norbert; Priller, Josef; Mielke, Thorsten; Meierhofer, David; Izsvak, Zsuzsanna; Meier, Jochen C.; Bouillaud, Frederic; Adjaye, James; Schuelke, Markus; Wanker, Erich E.; Lombes, Anne; Prigione, Alessandro
分享
收藏
分享
收藏NAMPT inhibition is a novel synthetic lethal therapeutic approach exploiting nuclear-mitochondrial crosstalk in ERCC1-deficient populations
Touat, M.; Olaussen, K.; Sourisseau, T.; Friboulet, L.; Dorvault, N.; Enot, D.; Bigot, L.; Pontoizeau, C.; Mardakheh, F.; Thompson, A.; Bouillaud, F.; Ricchetti, M.; Ottolenghi, C.; Pierron, G.; Sarasin, A.; Lombes, A.; Ashworth, A.; Lord, C.; Soria, J. C.; Postel-Vinay, S.
分享
收藏QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Guarani, Virginia; Jardel, Claude; Chretien, Dominique; Lombes, Anne; Benit, Paule; Labasse, Clemence; Lacene, Emmanuelle; Bourillon, Agnes; Imbard, Appolline; Benoist, Jean Francois; Dorboz, Imen; Gilleron, Mylene; Goetzman, Eric S.; Gaignard, Pauline; Slama, Abdelhamid; Elmaleh-Berges, Monique; Romero, Norma B.; Rustin, Pierre; de Baulny, Helene Ogier; Paulo, Joao A.; Harper, J. Wade; Schiff, Manuel
分享
收藏