Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Valérie Desquiret‐Dumas"'
Autor:
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
Abstract Objective The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitocho
Externí odkaz:
https://doaj.org/article/e4307533a35a473a9b33fb23706ccfa7
Autor:
Camille Delibes, Marc Ferré, Marine Rozet, Valérie Desquiret-Dumas, Alexis Descatha, Bénédicte Gohier, Philippe Gohier, Patrizia Amati-Bonneau, Dan Milea, Pascal Reynier
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-11 (2024)
Abstract Background The pathophysiology of toxico-nutritional optic neuropathies remains debated, with no clear understanding of the respective roles played by the direct alcohol toxicity, smoking and the often associated vitamin deficiencies, which
Externí odkaz:
https://doaj.org/article/36829e68ece546119e3cb3cbd19dcd5f
Autor:
Charlène Lhuissier, Valérie Desquiret-Dumas, Anaïs Girona, Jennifer Alban, Justine Faure, Julien Cassereau, Philippe Codron, Guy Lenaers, Olivier R. Baris, Naïg Gueguen, Arnaud Chevrollier
Publikováno v:
iScience, Vol 27, Iss 5, Pp 109808- (2024)
Summary: Mitochondrial dynamics is a process that balances fusion and fission events, the latter providing a mechanism for segregating dysfunctional mitochondria. Fission is controlled by the mitochondrial membrane potential (ΔΨm), optic atrophy 1
Externí odkaz:
https://doaj.org/article/fbb4c658209a4301b9eac0bb87bf8bed
Autor:
Seyedeh Tayebeh Ahmadpour, Charlotte Orre, Priscila Silvana Bertevello, Delphine Mirebeau-Prunier, Jean-François Dumas, Valérie Desquiret-Dumas
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 21, p 15897 (2023)
Long noncoding RNAs (lncRNAs) are a subclass of noncoding RNAs composed of more than 200 nucleotides without the ability to encode functional proteins. Given their involvement in critical cellular processes such as gene expression regulation, transcr
Externí odkaz:
https://doaj.org/article/2a560549079c4f2ebf89f5c8a68ba260
Autor:
Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré
Publikováno v:
Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
Measurement(s) sequence_variant • Phenotypic variability Technology Type(s) DNA sequencing • Ophthalmologist Factor Type(s) sequence variant • phenotype Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing t
Externí odkaz:
https://doaj.org/article/195296a2e17347d9a874041f568137b7
Autor:
Sophie Belal, David Goudenège, Cinzia Bocca, Florent Dumont, Juan Manuel Chao De La Barca, Valérie Desquiret-Dumas, Naïg Gueguen, Guillaume Geffroy, Rayane Benyahia, Selma Kane, Salim Khiati, Céline Bris, Tamas Aranyi, Daniel Stockholm, Aurore Inisan, Aurélie Renaud, Magalie Barth, Gilles Simard, Pascal Reynier, Franck Letournel, Guy Lenaers, Dominique Bonneau, Arnaud Chevrollier, Vincent Procaccio
Publikováno v:
Biomedicines, Vol 10, Iss 7, p 1665 (2022)
(1) Background: The development of mitochondrial medicine has been severely impeded by a lack of effective therapies. (2) Methods: To better understand Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-like episodes (MELAS) syndrome, neuro
Externí odkaz:
https://doaj.org/article/26e4e8695804471898b834475459db13
Autor:
Valérie Desquiret-Dumas, Morgana D’Ottavi, Audrey Monnin, David Goudenège, Nicolas Méda, Amélie Vizeneux, Chipepo Kankasa, Thorkild Tylleskar, Céline Bris, Vincent Procaccio, Nicolas Nagot, Philippe Van de Perre, Pascal Reynier, Jean-Pierre Molès
Publikováno v:
Biomedicines, Vol 10, Iss 8, p 1786 (2022)
HIV-exposed uninfected (HEU) children show impaired health outcomes during childhood. A high rate of mitochondrial DNA (mtDNA) instability was reported in the blood of HEU at birth. We aimed to explore the relationship between these health outcomes a
Externí odkaz:
https://doaj.org/article/fb9e2db305ea4f008c3b2e5457b8eafa
Autor:
Majida Charif, Céline Bris, David Goudenège, Valérie Desquiret-Dumas, Estelle Colin, Alban Ziegler, Vincent Procaccio, Pascal Reynier, Dominique Bonneau, Guy Lenaers, Patrizia Amati-Bonneau
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Advances in next-generation sequencing (NGS) facilitate the diagnosis of genetic disorders. To evaluate its use for the molecular diagnosis of inherited optic neuropathy (ION), a blinding disease caused by the degeneration of retinal ganglion cells,
Externí odkaz:
https://doaj.org/article/1ac99f57b91c4a468c90f9bbd54604f7
Autor:
Charlotte Orre, Xavier Dieu, Jordan Guillon, Naïg Gueguen, Seyedeh Tayebeh Ahmadpour, Jean-François Dumas, Salim Khiati, Pascal Reynier, Guy Lenaers, Olivier Coqueret, Arnaud Chevrollier, Delphine Mirebeau-Prunier, Valérie Desquiret-Dumas
Publikováno v:
Biology, Vol 10, Iss 11, p 1156 (2021)
Despite improvements in therapeutic strategies for treating breast cancers, tumor relapse and chemoresistance remain major issues in patient outcomes. Indeed, cancer cells display a metabolic plasticity allowing a quick adaptation to the tumoral micr
Externí odkaz:
https://doaj.org/article/98353807760346749bdef56025f7443a
Autor:
Seyedeh Tayebeh Ahmadpour, Valérie Desquiret-Dumas, Ulku Yikilmaz, Julie Dartier, Isabelle Domingo, Celine Wetterwald, Charlotte Orre, Naïg Gueguen, Lucie Brisson, Karine Mahéo, Jean-François Dumas
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 17, p 9283 (2021)
Since its discovery, mitophagy has been viewed as a protective mechanism used by cancer cells to prevent the induction of mitochondrial apoptosis. Most cancer treatments directly or indirectly cause mitochondrial dysfunction in order to trigger signa
Externí odkaz:
https://doaj.org/article/5e6e9ed51d0041baa139dbad6d4a8cb5