NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome
Billiet, Benjamin, Amati‐Bonneau, Patrizia, Desquiret‐Dumas, Valérie, Guehlouz, Khadidja, Milea, Dan, Gohier, Philippe, Lenaers, Guy, Mirebeau‐Prunier, Delphine, den Dunnen, Johan T., Reynier, Pascal, Ferré, Marc
Published in Human mutation (01.02.2022)
Published in Human mutation (01.02.2022)
Get full text
Journal Article
Expanding the phenotype of DNAJC30‐associated Leigh syndrome
Zawadzka, Marta, Krygier, Magdalena, Pawłowicz, Małgorzata, Wilke, Matheus Vernet Machado Bressan, Rutkowska, Karolina, Gueguen, Naig, Desquiret‐Dumas, Valerie, Klee, Eric W., Schimmenti, Lisa A., Sławek, Jarosław, Procaccio, Vincent, Płoski, Rafał, Mazurkiewicz‐Bełdzińska, Maria
Published in Clinical genetics (01.11.2022)
Published in Clinical genetics (01.11.2022)
Get full text
Journal Article
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
Kane, Mariame Selma, Alban, Jennifer, Desquiret‐Dumas, Valérie, Gueguen, Naïg, Ishak, Layal, Ferre, Marc, Amati‐Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal, Chevrollier, Arnaud
Published in Journal of cellular and molecular medicine (01.10.2017)
Published in Journal of cellular and molecular medicine (01.10.2017)
Get full text
Journal Article
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency
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
Published in European journal of human genetics : EJHG (01.05.2013)
Published in European journal of human genetics : EJHG (01.05.2013)
Get full text
Journal Article
CLUH couples mitochondrial distribution to the energetic and metabolic status
Wakim, Jamal, Goudenege, David, Perrot, Rodolphe, Gueguen, Naig, Desquiret-Dumas, Valerie, Chao de la Barca, Juan Manuel, Dalla Rosa, Ilaria, Manero, Florence, Le Mao, Morgane, Chupin, Stephanie, Chevrollier, Arnaud, Procaccio, Vincent, Bonneau, Dominique, Logan, David C, Reynier, Pascal, Lenaers, Guy, Khiati, Salim
Published in Journal of cell science (01.06.2017)
Published in Journal of cell science (01.06.2017)
Get full text
Journal Article
First characterization of LHON pedigrees in North Africa
Bouzidi, Aymane, Aboussair, Nisrine, Charif, Majida, Amalou, Ghita, Goudenège, David, Desquiret-Dumas, Valérie, Bris, Céline, Sifeddine, Najat, Nahili, Halima, Elqabli, Meriem, Dafir, Kenza, Kandil, Mostafa, Amati-Bonneau, Patrizia, Procaccio, Vincent, Barakat, Abdelhamid, Lenaers, Guy
Published in Eye (London) (01.11.2020)
Published in Eye (London) (01.11.2020)
Get full text
Journal Article
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS
Desquiret-Dumas, Valerie, Gueguen, Naig, Barth, Magalie, Chevrollier, Arnaud, Hancock, Saege, Wallace, Douglas C., Amati-Bonneau, Patrizia, Henrion, Daniel, Bonneau, Dominique, Reynier, Pascal, Procaccio, Vincent
Published in Biochimica et biophysica acta (01.06.2012)
Published in Biochimica et biophysica acta (01.06.2012)
Get full text
Journal Article
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis
Wiedemann, Arnaud, Chery, Céline, Coelho, David, Flayac, Justine, Gueguen, Naïg, Desquiret-Dumas, Valérie, Feillet, François, Lavigne, Christian, Neau, Jean-Philippe, Fowler, Brian, Baumgartner, Matthias R, Reynier, Pascal, Guéant, Jean-Louis, Oussalah, Abderrahim
Published in Journal of human genetics (01.01.2020)
Published in Journal of human genetics (01.01.2020)
Get full text
Journal Article
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome
Geffroy, Guillaume, Benyahia, Rayane, Frey, Samuel, Desquiret-Dumas, Valerie, Gueguen, Naig, Bris, Celine, Belal, Sophie, Inisan, Aurore, Renaud, Aurelie, Chevrollier, Arnaud, Henrion, Daniel, Bonneau, Dominique, Letournel, Franck, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent
Published in Biochimica et biophysica acta. Molecular basis of disease (01.05.2018)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.05.2018)
Get full text
Journal Article
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy
Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Kane, Selma, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valerie, Meunier, Isabelle, Mochel, Fanny, Jeanjean, Luc, Varenne, Fanny, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy
Published in Genes (05.07.2022)
Published in Genes (05.07.2022)
Get full text
Journal Article
Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity
Finley, Lydia W S, Haas, Wilhelm, Desquiret-Dumas, Valérie, Wallace, Douglas C, Procaccio, Vincent, Gygi, Steven P, Haigis, Marcia C
Published in PloS one (17.08.2011)
Published in PloS one (17.08.2011)
Get full text
Journal Article
Long‐term persistence of mitochondrial dysfunctions after viral infections and antiviral therapies: A review of mechanisms involved
Gay, Laetitia, Desquiret‐Dumas, Valérie, Nagot, Nicolas, Rapenne, Clara, Van de Perre, Philippe, Reynier, Pascal, Molès, Jean‐Pierre
Published in Journal of medical virology (01.09.2024)
Published in Journal of medical virology (01.09.2024)
Get full text
Journal Article
eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data
Goudenège, David, Bris, Celine, Hoffmann, Virginie, Desquiret-Dumas, Valerie, Jardel, Claude, Rucheton, Benoit, Bannwarth, Sylvie, Paquis-Flucklinger, Veronique, Lebre, Anne Sophie, Colin, Estelle, Amati-Bonneau, Patrizia, Bonneau, Dominique, Reynier, Pascal, Lenaers, Guy, Procaccio, Vincent
Published in Genetics in medicine (01.06.2019)
Published in Genetics in medicine (01.06.2019)
Get full text
Journal Article
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model
Frey, Samuel, Geffroy, Guillaume, Desquiret-Dumas, Valerie, Gueguen, Naig, Bris, Celine, Belal, Sophie, Amati-Bonneau, Patrizia, Chevrollier, Arnaud, Barth, Magalie, Henrion, Daniel, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Procaccio, Vincent
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2017)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2017)
Get full text
Journal Article
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Rocatcher, Aude, Desquiret-Dumas, Valérie, Charif, Majida, Ferré, Marc, Gohier, Philippe, Mirebeau-Prunier, Delphine, Verny, Christophe, Milea, Dan, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia
Published in Brain (London, England : 1878) (13.02.2023)
Published in Brain (London, England : 1878) (13.02.2023)
Get full text
Journal Article
Breast Cancer Chemoresistance: Insights into the Regulatory Role of lncRNA
Ahmadpour, Seyedeh Tayebeh, Orre, Charlotte, Bertevello, Priscila Silvana, Mirebeau-Prunier, Delphine, Dumas, Jean-François, Desquiret-Dumas, Valérie
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
Get full text
Journal Article
Resveratrol Directly Binds to Mitochondrial Complex I and Increases Oxidative Stress in Brain Mitochondria of Aged Mice
Gueguen, Naïg, Desquiret-Dumas, Valérie, Leman, Géraldine, Chupin, Stéphanie, Baron, Stéphanie, Nivet-Antoine, Valérie, Vessières, Emilie, Ayer, Audrey, Henrion, Daniel, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent
Published in PloS one (18.12.2015)
Published in PloS one (18.12.2015)
Get full text
Journal Article
Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
Bonneau, Dominique, Colin, Estelle, Oca, Florine, Ferré, Marc, Chevrollier, Arnaud, Guéguen, Naïg, Desquiret-Dumas, Valérie, N'Guyen, Sylvie, Barth, Magalie, Zanlonghi, Xavier, Rio, Marlène, Desguerre, Isabelle, Barnerias, Christine, Momtchilova, Marta, Rodriguez, Diana, Slama, Abdelhamid, Lenaers, Guy, Procaccio, Vincent, Amati-Bonneau, Patrizia, Reynier, Pascal
Published in Brain (London, England : 1878) (01.10.2014)
Published in Brain (London, England : 1878) (01.10.2014)
Get full text
Journal Article
Genetic susceptibility to optic neuropathy in patients with alcohol use disorder
Delibes, Camille, Ferré, Marc, Rozet, Marine, Desquiret-Dumas, Valérie, Descatha, Alexis, Gohier, Bénédicte, Gohier, Philippe, Amati-Bonneau, Patrizia, Milea, Dan, Reynier, Pascal
Published in Journal of translational medicine (25.05.2024)
Published in Journal of translational medicine (25.05.2024)
Get full text
Journal Article
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
Felhi, Rahma, Sfaihi, Lamia, Charif, Majida, Desquiret-Dumas, Valerie, Bris, Céline, Goudenège, David, Ammar-Keskes, Leila, Hachicha, Mongia, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia, Lenaers, Guy, Fakhfakh, Faiza
Published in Clinica chimica acta (01.01.2019)
Published in Clinica chimica acta (01.01.2019)
Get full text
Journal Article