Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis

gan Davit-Spraul, Anne, Beinat, Marine, Debray, Dominique, Rötig, Agnes, Slama, Abdelhamid, Jacquemin, Emmanuel
Cyhoeddwyd 2013

Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

gan González-Serrano, Ligia Elena, Karim, Loukmane, Pierre, Florian, Schwenzer, Hagen, Rötig, Agnès, Munnich, Arnold, Sissler, Marie
Cyhoeddwyd yn J Biol Chem (2018)

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

gan Weraarpachai, Woranontee, Sasarman, Florin, Nishimura, Tamiko, Antonicka, Hana, Auré, Karine, Rötig, Agnès, Lombès, Anne, Shoubridge, Eric A.
Cyhoeddwyd 2012

Mitochondrial activities in human cultured skin fibroblasts contaminated by Mycoplasma hyorhinis

gan Darin, Niklas, Kadhom, Norman, Brière, Jean-Jacques, Chretien, Dominique, Bébéar, Cécile M, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre
Cyhoeddwyd 2003

Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency()

gan Serre, Valérie, Rozanska, Agata, Beinat, Marine, Chretien, Dominique, Boddaert, Nathalie, Munnich, Arnold, Rötig, Agnès, Chrzanowska-Lightowlers, Zofia M.
Cyhoeddwyd 2013

Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

gan Metodiev, Metodi D, Assouline, Zahra, Landrieu, Pierre, Chretien, Dominique, Bader-Meunier, Brigitte, Guitton, Corinne, Munnich, Arnold, Rötig, Agnès
Cyhoeddwyd yn Eur J Hum Genet (2015)

Expanding the clinical spectrum of MTTF mutations

gan Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Cyhoeddwyd yn Mol Genet Metab Rep (2019)

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF

gan Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Steffann, Julie, Boddaert, Nathalie, Gitiaux, Cyril, Rötig, Agnès, Bonnefont, Jean-Paul, Munnich, Arnold
Cyhoeddwyd yn Mol Genet Metab Rep (2019)

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

gan Barcia, Giulia, Assouline, Zahra, Pennisi, Alessandra, Gitiaux, Cyril, Schiff, Manuel, Boddaert, Nathalie, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès
Cyhoeddwyd yn Mol Genet Metab Rep (2019)

The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathw...

gan Gimenez-Roqueplo, Anne-Paule, Favier, Judith, Rustin, Pierre, Mourad, Jean-Jacques, Plouin, Pierre-François, Corvol, Pierre, Rötig, Agnès, Jeunemaitre, Xavier
Cyhoeddwyd 2001

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

gan Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès
Cyhoeddwyd 2007

Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly

gan Hornig-Do, Hue-Tran, Tatsuta, Takashi, Buckermann, Angela, Bust, Maria, Kollberg, Gittan, Rötig, Agnes, Hellmich, Martin, Nijtmans, Leo, Wiesner, Rudolf J
Cyhoeddwyd 2012

Modeling of Antigenomic Therapy of Mitochondrial Diseases by Mitochondrially Addressed RNA Targeting a Pathogenic Point Mutation in Mitochondrial DNA

gan Tonin, Yann, Heckel, Anne-Marie, Vysokikh, Mikhail, Dovydenko, Ilya, Meschaninova, Mariya, Rötig, Agnès, Munnich, Arnold, Venyaminova, Alya, Tarassov, Ivan, Entelis, Nina
Cyhoeddwyd 2014

Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

gan Valnot, Isabelle, Osmond, Sandrine, Gigarel, Nadine, Mehaye, Blandine, Amiel, Jeanne, Cormier-Daire, Valérie, Munnich, Arnold, Bonnefont, Jean-Paul, Rustin, Pierre, Rötig, Agnès
Cyhoeddwyd 2000

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

gan Bénit, Paule, Chretien, Dominique, Kadhom, Nohman, de Lonlay-Debeney, Pascale, Cormier-Daire, Valérie, Cabral, Aguinaldo, Peudenier, Sylviane, Rustin, Pierre, Munnich, Arnold, Rötig, Agnès
Cyhoeddwyd 2001

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

gan Riley, Lisa G, Menezes, Minal J, Rudinger-Thirion, Joëlle, Duff, Rachael, de Lonlay, Pascale, Rotig, Agnes, Tchan, Michel C, Davis, Mark, Cooper, Sandra T, Christodoulou, John
Cyhoeddwyd 2013

Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium

gan Durrant, Christelle, Fuehring, Jana I., Willemetz, Alexandra, Chrétien, Dominique, Sala, Giusy, Ghidoni, Riccardo, Katz, Abram, Rötig, Agnès, Thelestam, Monica, Ermonval, Myriam, Moore, Stuart E. H.
Cyhoeddwyd yn Int J Mol Sci (2020)

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

gan 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
Cyhoeddwyd 2008

Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

gan Vedrenne, Vanessa, Gowher, Ali, De Lonlay, Pascale, Nitschke, Patrick, Serre, Valérie, Boddaert, Nathalie, Altuzarra, Cecilia, Mager-Heckel, Anne-Marie, Chretien, Florence, Entelis, Nina, Munnich, Arnold, Tarassov, Ivan, Rötig, Agnès
Cyhoeddwyd 2012

Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency

gan Fragaki, Konstantina, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Gire, Catherine, Mengual, Raymond, Bonesso, Laurent, Bénéteau, Marie, Ricci, Jean-Ehrland, Desquiret-Dumas, Valérie, Procaccio, Vincent, Rötig, Agnès, Paquis-Flucklinger, Véronique
Cyhoeddwyd 2013