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1. #2837 Novel therapeutic for crescentic glomerulonephritis through targeting CLDN1 in parietal epithelial cells

Author

Delbet, Jean-Daniel, primary, Anquetil, Vincent, additional, Saitoski, Kevin, additional, Toso, Alberto, additional, Baumert, Thomas, additional, Toovey, Stephen, additional, Manenti, Luigi, additional, Iacone, Roberto, additional, Ulinski, Tim, additional, Lenoir, Olivia, additional, Teixeira, Geoffrey, additional, and Tharaux, Pierre-Louis, additional

Published
2024
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2. Ex vivo tissue perturbations coupled to single-cell RNA-seq reveal multilineage cell circuit dynamics in human lung fibrogenesis

Author

Lang, Niklas J., primary, Gote-Schniering, Janine, additional, Porras-Gonzalez, Diana, additional, Yang, Lin, additional, De Sadeleer, Laurens J., additional, Jentzsch, R. Christoph, additional, Shitov, Vladimir A., additional, Zhou, Shuhong, additional, Ansari, Meshal, additional, Agami, Ahmed, additional, Mayr, Christoph H., additional, Hooshiar Kashani, Baharak, additional, Chen, Yuexin, additional, Heumos, Lukas, additional, Pestoni, Jeanine C., additional, Molnar, Eszter Sarolta, additional, Geeraerts, Emiel, additional, Anquetil, Vincent, additional, Saniere, Laurent, additional, Wögrath, Melanie, additional, Gerckens, Michael, additional, Lehmann, Mareike, additional, Yildirim, Ali Önder, additional, Hatz, Rudolf, additional, Kneidinger, Nikolaus, additional, Behr, Jürgen, additional, Wuyts, Wim A., additional, Stoleriu, Mircea-Gabriel, additional, Luecken, Malte D., additional, Theis, Fabian J., additional, Burgstaller, Gerald, additional, and Schiller, Herbert B., additional

Published
2023
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3. Late Breaking Abstract - Claudin-1 is a potential airway-centric therapeutic target for pulmonary fibrosis

Author

Cortesi, Emanuela Elsa, primary, Anquetil, Vincent, additional, Polini, Elisa, additional, Blüme, Sven, additional, El Saghire, Hussein, additional, Mailly, Laurent, additional, Baumert, Thomas, additional, Prasse, Antje, additional, Toso, Alberto, additional, Meyer, Markus, additional, Toovey, Stephen, additional, Manenti, Luigi, additional, Iacone, Roberto, additional, Christ, Frauke, additional, Vanaudenaerde, Bart, additional, Carlon, Marianne, additional, Teixeira, Geoffrey, additional, and Wuyts, Wim, additional

Published
2023
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4. Ex vivo tissue perturbations coupled to single-cell RNA-seq reveal multi-lineage cell circuit dynamics in human lung fibrogenesis

Author

Lang, Niklas Jonathan, primary, Gote-Schniering, Janine, additional, Porras-Gonzalez, Diana, additional, Yang, Lin, additional, De Sadeleer, Laurens J., additional, Jentzsch, R. Christoph, additional, Shitov, Vladimir A., additional, Zhou, Shuhong, additional, Ansari, Meshal, additional, Agami, Ahmed, additional, Mayr, Christoph H., additional, Hooshiar Kashani, Baharak, additional, Chen, Yuexin, additional, Heumos, Lukas, additional, Pestoni, Jeanine C., additional, Geeraerts, Emil, additional, Anquetil, Vincent, additional, Saniere, Laurent, additional, Wögrath, Melanie, additional, Gerckens, Michael, additional, Hatz, Rudolf, additional, Kneidinger, Nikolaus, additional, Behr, Jürgen, additional, Wuyts, Wim A., additional, Stoleriu, Mircea-Gabriel, additional, Luecken, Malte D., additional, Theis, Fabian J., additional, Burgstaller, Gerald, additional, and Schiller, Herbert. B., additional

Published
2023
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5. Ex vivotissue perturbations coupled to single cell RNA-seq reveal multi-lineage cell circuit dynamics in human lung fibrogenesis

Author

Lang, Niklas J., primary, Gote-Schniering, Janine, additional, Porras-Gonzalez, Diana, additional, Yang, Lin, additional, De Sadeleer, Laurens J., additional, Jentzsch, R. Christoph, additional, Shitov, Vladimir A., additional, Zhou, Shuhong, additional, Ansari, Meshal, additional, Agami, Ahmed, additional, Mayr, Christoph H., additional, Kashani, Baharak Hooshiar, additional, Chen, Yuexin, additional, Heumos, Lukas, additional, Pestoni, Jeanine C., additional, Geeraerts, Emiel, additional, Anquetil, Vincent, additional, Saniere, Laurent, additional, Wögrath, Melanie, additional, Gerckens, Michael, additional, Hatz, Rudolf, additional, Kneidinger, Nikolaus, additional, Behr, Jürgen, additional, Wuyts, Wim A., additional, Stoleriu, Mircea-Gabriel, additional, Luecken, Malte D., additional, Theis, Fabian J., additional, Burgstaller, Gerald, additional, and Schiller, Herbert B., additional

Published
2023
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6. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

Author

Brice, Alexis, Auriacombe, Sophie, Belliard, Serge, Blanc, Frédéric, Bouteleau-Bretonnière, Claire, Ceccaldi, Mathieu, Couratier, Philippe, Didic, Mira, Dubois, Bruno, Duyckaerts, Charles, Etcharry-Bouix, Frédérique, Golfier, Véronique, Hannequin, Didier, Lacomblez, Lucette, Le Ber, Isabelle, Levy, Richard, Michel, Bernard-François, Pasquier, Florence, Thomas-Anterion, Catherine, Pariente, Jérémie, Sellal, François, Vercelletto, Martine, Benchetrit, Eve, Bertin, Hugo, Bertrand, Anne, Bissery, Anne, Bombois, Stéphanie, Boncoeur, Marie-Paule, Cassagnaud, Pascaline, Chastan, Mathieu, Chen, Yaohua, Chupin, Marie, Colliot, Olivier, Delbeucq, Xavier, Deramecourt, Vincent, Delmaire, Christine, Gerardin, Emmanuel, Hossein-Foucher, Claude, Habert, Marie-Odile, Lautrette, Géraldine, Lebouvier, Thibaud, Lehéricy, Stéphane, Le Toullec, Benjamin, Martineau, Kelly, Mackowiak, Marie-Anne, Monteil, Jacques, Petyt, Grégory, Pradat, Pierre-François, Oya, Assi-Hervé, Rinaldi, Daisy, Rollin-Sillaire, Adeline, Salachas, François, Sayah, Sabrina, Wallon, David, Fournier, Clémence, Barbier, Mathieu, Camuzat, Agnès, Anquetil, Vincent, Lattante, Serena, Clot, Fabienne, Cazeneuve, Cécile, Sabatelli, Mario, Forlani, Sylvie, Jornea, Ludmila, and Leguern, Eric

Published
2019
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7. Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Author

Fournier, Clémence, Anquetil, Vincent, Camuzat, Agnès, Stirati-Buron, Sandrine, Sazdovitch, Véronique, Molina-Porcel, Laura, Turbant, Sabrina, Rinaldi, Daisy, Sánchez-Valle, Raquel, Barbier, Mathieu, Latouche, Morwena, Neuro-CEB Neuropathology Network, Stevanin, Giovanni, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, and Le Ber, Isabelle

Published
2018
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10. Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Author

Kmetzsch, Virgilio, primary, Anquetil, Vincent, additional, Saracino, Dario, additional, Rinaldi, Daisy, additional, Camuzat, Agnès, additional, Gareau, Thomas, additional, Jornea, Ludmila, additional, Forlani, Sylvie, additional, Couratier, Philippe, additional, Wallon, David, additional, Pasquier, Florence, additional, Robil, Noémie, additional, de la Grange, Pierre, additional, Moszer, Ivan, additional, Le Ber, Isabelle, additional, Colliot, Olivier, additional, and Becker, Emmanuelle, additional

Published
2020
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11. Additional file 1: of Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Author

ClÊmence Fournier, Anquetil, Vincent, AgnèS Camuzat, Stirati-Buron, Sandrine, VÊronique Sazdovitch, Molina-Porcel, Laura, Turbant, Sabrina, Rinaldi, Daisy, Sånchez-Valle, Raquel, Barbier, Mathieu, Morwena Latouche, Stevanin, Giovanni, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, and Ber, Isabelle Le

Abstract

Supplementary methods, cohorts description, molecular analyses and immunostaining. (DOCX 17641 kb)

Published
2019
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13. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

Author

Fournier, Clémence, primary, Barbier, Mathieu, additional, Camuzat, Agnès, additional, Anquetil, Vincent, additional, Lattante, Serena, additional, Clot, Fabienne, additional, Cazeneuve, Cécile, additional, Rinaldi, Daisy, additional, Couratier, Philippe, additional, Deramecourt, Vincent, additional, Sabatelli, Mario, additional, Belliard, Serge, additional, Vercelletto, Martine, additional, Forlani, Sylvie, additional, Jornea, Ludmila, additional, Leguern, Eric, additional, Brice, Alexis, additional, Le Ber, Isabelle, additional, Auriacombe, Sophie, additional, Blanc, Frédéric, additional, Bouteleau-Bretonnière, Claire, additional, Ceccaldi, Mathieu, additional, Didic, Mira, additional, Dubois, Bruno, additional, Duyckaerts, Charles, additional, Etcharry-Bouix, Frédérique, additional, Golfier, Véronique, additional, Hannequin, Didier, additional, Lacomblez, Lucette, additional, Levy, Richard, additional, Michel, Bernard-François, additional, Pasquier, Florence, additional, Thomas-Anterion, Catherine, additional, Pariente, Jérémie, additional, Sellal, François, additional, Benchetrit, Eve, additional, Bertin, Hugo, additional, Bertrand, Anne, additional, Bissery, Anne, additional, Bombois, Stéphanie, additional, Boncoeur, Marie-Paule, additional, Cassagnaud, Pascaline, additional, Chastan, Mathieu, additional, Chen, Yaohua, additional, Chupin, Marie, additional, Colliot, Olivier, additional, Delbeucq, Xavier, additional, Delmaire, Christine, additional, Gerardin, Emmanuel, additional, Hossein-Foucher, Claude, additional, Habert, Marie-Odile, additional, Lautrette, Géraldine, additional, Lebouvier, Thibaud, additional, Lehéricy, Stéphane, additional, Le Toullec, Benjamin, additional, Martineau, Kelly, additional, Mackowiak, Marie-Anne, additional, Monteil, Jacques, additional, Petyt, Grégory, additional, Pradat, Pierre-François, additional, Oya, Assi-Hervé, additional, Rollin-Sillaire, Adeline, additional, Salachas, François, additional, Sayah, Sabrina, additional, and Wallon, David, additional

Published
2019
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14. Plasma microRNA signature in presymptomatic and symptomatic subjects with -associated frontotemporal dementia and amyotrophic lateral sclerosis.

Author

Kmetzsch, Virgilio, Anquetil, Vincent, Saracino, Dario, Rinaldi, Daisy, Camuzat, Agnès, Gareau, Thomas, Jornea, Ludmila, Forlani, Sylvie, Couratier, Philippe, Wallon, David, Pasquier, Florence, Robil, Noémie, de la Grange, Pierre, Moszer, Ivan, Le Ber, Isabelle, Colliot, Olivier, Becker, Emmanuelle, and PREV-DEMALS study group

Subjects
FRONTOTEMPORAL lobar degeneration, AMYOTROPHIC lateral sclerosis, FRONTOTEMPORAL dementia, MICRORNA, DISEASE progression, GENETIC mutation, RNA
Abstract

Objective: To identify potential biomarkers of preclinical and clinical progression in chromosome 9 open reading frame 72 gene (C9orf72)-associated disease by assessing the expression levels of plasma microRNAs (miRNAs) in C9orf72 patients and presymptomatic carriers.Methods: The PREV-DEMALS study is a prospective study including 22 C9orf72 patients, 45 presymptomatic C9orf72 mutation carriers and 43 controls. We assessed the expression levels of 2576 miRNAs, among which 589 were above noise level, in plasma samples of all participants using RNA sequencing. The expression levels of the differentially expressed miRNAs between patients, presymptomatic carriers and controls were further used to build logistic regression classifiers.Results: Four miRNAs were differentially expressed between patients and controls: miR-34a-5p and miR-345-5p were overexpressed, while miR-200c-3p and miR-10a-3p were underexpressed in patients. MiR-34a-5p was also overexpressed in presymptomatic carriers compared with healthy controls, suggesting that miR-34a-5p expression is deregulated in cases with C9orf72 mutation. Moreover, miR-345-5p was also overexpressed in patients compared with presymptomatic carriers, which supports the correlation of miR-345-5p expression with the progression of C9orf72-associated disease. Together, miR-200c-3p and miR-10a-3p underexpression might be associated with full-blown disease. Four presymptomatic subjects in transitional/prodromal stage, close to the disease conversion, exhibited a stronger similarity with the expression levels of patients.Conclusions: We identified a signature of four miRNAs differentially expressed in plasma between clinical conditions that have potential to represent progression biomarkers for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. This study suggests that dysregulation of miRNAs is dynamically altered throughout neurodegenerative diseases progression, and can be detectable even long before clinical onset.Trial Registration Number: NCT02590276. [ABSTRACT FROM AUTHOR]

Published
2021
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15. Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers

Author

Fournier, Clémence, Barbier, Mathieu, Camuzat, Agnè, Anquetil, Vincent, Lattante, Serena, Clot, Fabienne, Cazeneuve, Cécile, Rinaldi, Daisy, Couratier, Philippe, Deramecourt, Vincent, Sabatelli, Mario, Belliard, Serge, Vercelletto, Martine, Forlani, Sylvie, Jornea, Ludmila, Brice, Alexi, Auriacombe, Sophie, Blanc, Frédéric, Bouteleau-Bretonnière, Claire, Ceccaldi, Mathieu, Didic, Mira, Dubois, Bruno, Duyckaerts, Charle, Etcharry-Bouix, Frédérique, Golfier, Véronique, Hannequin, Didier, Lacomblez, Lucette, Le Ber, Isabelle, Levy, Richard, Michel, Bernard-Françoi, Pasquier, Florence, Thomas-Anterion, Catherine, Pariente, Jérémie, Sellal, Françoi, Benchetrit, Eve, Bertin, Hugo, Bertrand, Anne, Bissery, Anne, Bombois, Stéphanie, Boncoeur, Marie-Paule, Cassagnaud, Pascaline, Chastan, Mathieu, Chen, Yaohua, Chupin, Marie, Colliot, Olivier, Delbeucq, Xavier, Delmaire, Christine, Gerardin, Emmanuel, Hossein-Foucher, Claude, Habert, Marie-Odile, Lautrette, Géraldine, Lebouvier, Thibaud, Lehéricy, Stéphane, Le Toullec, Benjamin, Martineau, Kelly, Mackowiak, Marie-Anne, Monteil, Jacque, Petyt, Grégory, Pradat, Pierre-Françoi, Oya, Assi-Hervé, Rollin-Sillaire, Adeline, Salachas, Françoi, Sayah, Sabrina, Wallon, David, Leguern, Eric, Lattante, Serena (ORCID:0000-0003-2891-0340), Sabatelli, Mario (ORCID:0000-0001-6635-4985), Fournier, Clémence, Barbier, Mathieu, Camuzat, Agnè, Anquetil, Vincent, Lattante, Serena, Clot, Fabienne, Cazeneuve, Cécile, Rinaldi, Daisy, Couratier, Philippe, Deramecourt, Vincent, Sabatelli, Mario, Belliard, Serge, Vercelletto, Martine, Forlani, Sylvie, Jornea, Ludmila, Brice, Alexi, Auriacombe, Sophie, Blanc, Frédéric, Bouteleau-Bretonnière, Claire, Ceccaldi, Mathieu, Didic, Mira, Dubois, Bruno, Duyckaerts, Charle, Etcharry-Bouix, Frédérique, Golfier, Véronique, Hannequin, Didier, Lacomblez, Lucette, Le Ber, Isabelle, Levy, Richard, Michel, Bernard-Françoi, Pasquier, Florence, Thomas-Anterion, Catherine, Pariente, Jérémie, Sellal, Françoi, Benchetrit, Eve, Bertin, Hugo, Bertrand, Anne, Bissery, Anne, Bombois, Stéphanie, Boncoeur, Marie-Paule, Cassagnaud, Pascaline, Chastan, Mathieu, Chen, Yaohua, Chupin, Marie, Colliot, Olivier, Delbeucq, Xavier, Delmaire, Christine, Gerardin, Emmanuel, Hossein-Foucher, Claude, Habert, Marie-Odile, Lautrette, Géraldine, Lebouvier, Thibaud, Lehéricy, Stéphane, Le Toullec, Benjamin, Martineau, Kelly, Mackowiak, Marie-Anne, Monteil, Jacque, Petyt, Grégory, Pradat, Pierre-Françoi, Oya, Assi-Hervé, Rollin-Sillaire, Adeline, Salachas, Françoi, Sayah, Sabrina, Wallon, David, Leguern, Eric, Lattante, Serena (ORCID:0000-0003-2891-0340), and Sabatelli, Mario (ORCID:0000-0001-6635-4985)

Abstract

A (GGGGCC)n repeat expansion in C9orf72 gene is the major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The relations between the repeats size and the age at disease onset (AO) or the clinical phenotype (FTD vs. ALS) were investigated in 125 FTD, ALS, and presymptomatic carriers. Positive correlations were found between repeats number and the AO (p < 10e−4) but our results suggested that the association was mainly driven by age at collection (p < 10e−4). A weaker association was observed with clinical presentation (p = 0.02), which became nonsignificant after adjustment for the age at collection in each group. Importantly, repeats number variably expanded or contracted over time in carriers with multiple blood samples, as well as through generations in parent-offspring pairs, conversely to what occurs in several expansion diseases with anticipation at the molecular level. Finally, this study establishes that measure of repeats number in lymphocytes is not a reliable biomarker predictive of the AO or disease outcome in C9orf72 long expansion carriers.

Published
2018

16. Frontotemporal lobar degenerations, RNAopathy leading to proteinopathies

Author

Anquetil, Vincent, Bertrand, Anne, Camuzat, Agnès, Grange, Pierre de La, Fournier, Clémence, Buée-Scherrer, Valérie, Deramecourt, Vincent, Sergeant, Nicolas, Barbier, Mathieu, Buée, Luc, Brice, Alexis, Duyckaerts, Charles, Le Ber, Isabelle, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Algorithms, models and methods for images and signals of the human brain (ARAMIS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria), Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Infections Parasitaires : Transmission, Physiopathologie et Thérapeutiques (IP-TPT), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Service de Santé des Armées, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Laboratoire de Neuropathologie Raymond Escourolle [CHU Pitié-Salpétriêre], Université Pierre et Marie Curie - Paris 6 (UPMC)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neuroradiologie diagnostique et fonctionnelle [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Inria de Paris, Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Laboratoire de Neuropathologie Raymond Escourolle, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Pierre et Marie Curie - Paris 6 (UPMC), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Neuroradiologie [CHU Pitié-Salpêtrière], Service de Santé des Armées-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Institut de Recherche pour le Développement (IRD), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Inria de Paris, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience

Published
2017
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17. Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

Author

Saracino, Dario, primary, Clot, Fabienne, additional, Camuzat, Agnès, additional, Anquetil, Vincent, additional, Hannequin, Didier, additional, Guyant-Maréchal, Lucie, additional, Didic, Mira, additional, Guillot-Noël, Léna, additional, Rinaldi, Daisy, additional, Latouche, Morwena, additional, Forlani, Sylvie, additional, Ghassab, Yassaman, additional, Coppola, Cinzia, additional, Di Iorio, Giuseppe, additional, David, Isabelle, additional, Le Guern, Eric, additional, Brice, Alexis, additional, and Le Ber, Isabelle, additional

Published
2018
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18. Plasma microRNA signature in presymptomatic and symptomatic subjects with C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Author

Kmetzsch, Virgilio, Anquetil, Vincent, Saracino, Dario, Rinaldi, Daisy, Camuzat, Agnès, Gareau, Thomas, Jornea, Ludmila, Forlani, Sylvie, Couratier, Philippe, Wallon, David, Pasquier, Florence, Robil, Noémie, de la Grange, Pierre, Moszer, Ivan, Le Ber, Isabelle, Colliot, Olivier, and Becker, Emmanuelle

Abstract

ObjectiveTo identify potential biomarkers of preclinical and clinical progression in chromosome 9 open reading frame 72 gene (C9orf72)-associated disease by assessing the expression levels of plasma microRNAs (miRNAs) in C9orf72patients and presymptomatic carriers.MethodsThe PREV-DEMALS study is a prospective study including 22 C9orf72patients, 45 presymptomatic C9orf72mutation carriers and 43 controls. We assessed the expression levels of 2576 miRNAs, among which 589 were above noise level, in plasma samples of all participants using RNA sequencing. The expression levels of the differentially expressed miRNAs between patients, presymptomatic carriers and controls were further used to build logistic regression classifiers.ResultsFour miRNAs were differentially expressed between patients and controls: miR-34a-5p and miR-345-5p were overexpressed, while miR-200c-3p and miR-10a-3p were underexpressed in patients. MiR-34a-5p was also overexpressed in presymptomatic carriers compared with healthy controls, suggesting that miR-34a-5p expression is deregulated in cases with C9orf72mutation. Moreover, miR-345-5p was also overexpressed in patients compared with presymptomatic carriers, which supports the correlation of miR-345-5p expression with the progression of C9orf72-associated disease. Together, miR-200c-3p and miR-10a-3p underexpression might be associated with full-blown disease. Four presymptomatic subjects in transitional/prodromal stage, close to the disease conversion, exhibited a stronger similarity with the expression levels of patients.ConclusionsWe identified a signature of four miRNAs differentially expressed in plasma between clinical conditions that have potential to represent progression biomarkers for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. This study suggests that dysregulation of miRNAs is dynamically altered throughout neurodegenerative diseases progression, and can be detectable even long before clinical onset.Trial registration numberNCT02590276.

Published
2021
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20. [P4-116]: FRONTOTEMPORAL LOBAR DEGENERATIONS, RNAOPATHY LEADING TO PROTEINOPATHIES

Author

Anquetil, Vincent, primary, Bertrand, Anne, additional, Camuzat, Agnès, additional, de la Grange, Pierre, additional, Fournier, Clémence, additional, Buée‐Scherrer, Valérie, additional, Deramecourt, Vincent, additional, Sergeant, Nicolas, additional, Barbier, Mathieu, additional, Buee, Luc, additional, Brice, Alexis, additional, Duyckaerts, Charles, additional, and Le Ber, Isabelle, additional

Published
2017
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21. Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation

Author

Papegaey, Anthony, primary, Eddarkaoui, Sabiha, additional, Deramecourt, Vincent, additional, Fernandez-Gomez, Francisco-Jose, additional, Pantano, Pierre, additional, Obriot, Hélène, additional, Machala, Camille, additional, Anquetil, Vincent, additional, Camuzat, Agnès, additional, Brice, Alexis, additional, Maurage, Claude-Alain, additional, Le Ber, Isabelle, additional, Duyckaerts, Charles, additional, Buée, Luc, additional, Sergeant, Nicolas, additional, and Buée-Scherrer, Valérie, additional

Published
2016
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22. New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers.

Author

Viodé, Arthur, Fournier, Clémence, Camuzat, Agnès, Fenaille, François, Latouche, Morwena, Elahi, Fanny, Ber, Isabelle Le, Junot, Christophe, Lamari, Foudil, Anquetil, Vincent, Becher, François, Letournel, Franck, Vital, Anne, Chapon, Françoise, Godfraind, Catherine, Maurage, Claude-Alain, Deramecourt, Vincent, Meyronnet, David, Streichenberger, Nathalie, and Maues de Paula, André

Subjects
DIAGNOSIS of dementia, PROTEIN expression, MASS spectrometry
Abstract

Frontotemporal dementia (FTD) is a fatal neurodegenerative disease characterized by behavioral and language disorders. The main genetic cause of FTD is an intronic hexanucleotide repeat expansion (G4C2)n in the C9ORF72 gene. A loss of function of the C9ORF72 protein associated with the allele-specific reduction of C9ORF72 expression is postulated to contribute to the disease pathogenesis. To better understand the contribution of the loss of function to the disease mechanism, we need to determine precisely the level of reduction in C9ORF72 long and short isoforms in brain tissue from patients with C9ORF72 mutations. In this study, we developed a sensitive and robust mass spectrometry (MS) method for quantifying C9ORF72 isoform levels in human brain tissue without requiring antibody or affinity reagent. An optimized workflow based on surfactant-aided protein extraction and pellet digestion was established for optimal recovery of the two isoforms in brain samples. Signature peptides, common or specific to the isoforms, were targeted in brain extracts by multiplex MS through the parallel reaction monitoring mode on a Quadrupole–Orbitrap high resolution mass spectrometer. The assay was successfully validated and subsequently applied to frontal cortex brain samples from a cohort of FTD patients with C9ORF72 mutations and neurologically normal controls without mutations. We showed that the C9ORF72 short isoform in the frontal cortices is below detection threshold in all tested individuals and the C9ORF72 long isoform is significantly decreased in C9ORF72 mutation carriers. [ABSTRACT FROM AUTHOR]

Published
2018
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23. Claudin-1 Is a Therapeutic Target for Crescentic Glomerulonephritis

Author

Teixeira, Geoffrey, Delbet, Jean-Daniel, Anquetil, Vincent, Toso, Alberto, Toovey, Stephen, Manenti, Luigi, Iacone, Roberto, Kers, Jesper, Rabelink, Ton J., Saitoski, Kevin, Baumert, Thomas F., Benigni, Ariela, Tomasoni, Susanna, Remuzzi, Giuseppe, Cagarelli, Thomas, Prunotto, Marco, Moll, Solange, and Tharaux, Pierre-Louis

Published
2023
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25. Saturation mutagenesis reveals manifold determinants of exon definition

Author

Ke, Shengdong, Anquetil, Vincent, Zamalloa, Jorge Rojas, Maity, Alisha, Yang, Anthony, Arias, Mauricio A., Kalachikov, Sergey, Russo, James J., Ju, Jingyue, and Chasin, Lawrence A.

Abstract

To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we conducted saturation mutagenesis of a 51-nt internal exon in a three-exon minigene. All possible single and tandem dinucleotide substitutions were surveyed. Using high-throughput genetics, 5560 minigene molecules were assayed for splicing in human HEK293 cells. Up to 70% of mutations produced substantial (greater than twofold) phenotypes of either increased or decreased splicing. Of all predicted secondary structural elements, only a single 15-nt stem–loop showed a strong correlation with splicing, acting negatively. The in vitro formation of exon-protein complexes between the mutant molecules and proteins associated with spliceosome formation (U2AF35, U2AF65, U1A, and U1-70K) correlated with splicing efficiencies, suggesting exon definition as the step affected by most mutations. The measured relative binding affinities of dozens of human RNA binding protein domains as reported in the CISBP-RNA database were found to correlate either positively or negatively with splicing efficiency, more than could fit on the 51-nt test exon simultaneously. The large number of these functional protein binding correlations point to a dynamic and heterogeneous population of pre-mRNA molecules, each responding to a particular collection of binding proteins.

Published
2018
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27. Interrupted CAG expansions in <italic>ATXN2</italic> gene expand the genetic spectrum of frontotemporal dementias.

Author

Fournier, Clémence, Anquetil, Vincent, Camuzat, Agnès, Stirati-Buron, Sandrine, Sazdovitch, Véronique, Molina-Porcel, Laura, Turbant, Sabrina, Rinaldi, Daisy, Sánchez-Valle, Raquel, Barbier, Mathieu, Latouche, Morwena, Neuro-CEB Neuropathology Network, Stevanin, Giovanni, Seilhean, Danielle, Brice, Alexis, Duyckaerts, Charles, and Le Ber, Isabelle

Subjects
FRONTOTEMPORAL dementia, TRINUCLEOTIDE repeats, GENETICS
Published
2018
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28. Novel VCP mutations expand the mutational spectrum of frontotemporal dementia

Author

Didier Hannequin, Agnès Camuzat, Yassaman Ghassab, Isabelle David, Sylvie Forlani, Morwena Latouche, Dario Saracino, Eric Le Guern, Lena Guillot-Noel, Cinzia Coppola, Mira Didic, Daisy Rinaldi, Vincent Anquetil, Lucie Guyant-Maréchal, Alexis Brice, Ftd-Als, Fabienne Clot, Giuseppe Di Iorio, Isabelle Le Ber, Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Second Division of Neurology, Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, University of Campania 'Luigi Vanvitelli', Naples, Italy, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Neurosciences des Systèmes (INS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Otten, Lisa, Saracino, Dario, Clot, Fabienne, Camuzat, Agnè, Anquetil, Vincent, Hannequin, Didier, Guyant-Maréchal, Lucie, Didic, Mira, Guillot-Noël, Léna, Rinaldi, Daisy, Latouche, Morwena, Forlani, Sylvie, Ghassab, Yassaman, Coppola, Cinzia, Di Iorio, Giuseppe, David, Isabelle, Le Guern, Eric, Brice, Alexi, Le Ber, Isabelle, CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

Subjects
0301 basic medicine, Male, Aging, Valosin-containing protein, Mutation, Missense, Frontotemporal lobar degeneration, medicine.disease_cause, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Valosin Containing Protein, medicine, Dementia, Humans, Amyotrophic lateral sclerosis, Gene, Amyotrophic lateral sclerosi, ComputingMilieux_MISCELLANEOUS, Aged, Genetics, Mutation, biology, [SCCO.NEUR]Cognitive science/Neuroscience, General Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, TAR DNA binding protein 43, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Paget's disease of bone, Frontotemporal Dementia, biology.protein, Neurology (clinical), Geriatrics and Gerontology, 030217 neurology & neurosurgery, Developmental Biology, Frontotemporal dementia
Abstract

Valosin-containing protein (VCP) mutations are rare causes of autosomal dominant frontotemporal dementias associated with Paget's disease of bone, inclusion body myopathy, and amyotrophic lateral sclerosis. We analyzed the VCP gene in a cohort of 199 patients with frontotemporal dementia and identified 7 heterozygous mutations in unrelated families, including 3 novel mutations segregating with dementia. This expands the VCP mutation spectrum and suggests that although VCP mutations are rare (3.5% in this study), the gene should be analyzed even in absence of the full syndromic complex. Reporting genetic variants with convincing arguments for pathogenicity is important considering the large amount of data generated by next-generation sequencing and the growing difficulties to interpret rare genetic variants identified in isolated cases.

Published
2018
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29. Exploring the Critical Role of Tight Junction Proteins in Kidney Disease Pathogenesis.

Author

Jayne D, Herbert C, Anquetil V, and Teixeira G

Abstract

Background: Kidney disease poses a significant global health challenge, marked by a rapid decline in renal function due to a variety of causative factors. A crucial element in the pathophysiology of kidney disease is the dysregulation of epithelial cells, which are vital components of renal tissue architecture. The integrity and functionality of these cells are largely dependent on tight junctions (TJ) proteins, complex molecular structures that link adjacent epithelial cells. These TJ not only confer cellular polarity and maintain essential barrier functions but also regulate epithelial permeability., Summary: TJ proteins are pivotal in their traditional role at cell junctions and in their non-junctional capacities. Recent research has shifted the perception of these proteins from mere structural elements to dynamic mediators of kidney disease, playing significant roles in various renal pathologies. This review explores the multifaceted roles of TJ proteins, focusing on their functions both within and external to the renal epithelial junctions. It highlights how these proteins contribute to mechanisms underlying kidney disease, emphasizing their impact on disease progression and outcomes., Key Messages: TJ proteins have emerged as significant players in the field of nephrology, not only for their structural role but also for their regulatory functions in disease pathology. Their dual roles in maintaining epithelial integrity and mediating pathological processes make them promising therapeutic targets for kidney disease. Understanding the intricate contributions of TJ proteins in kidney pathology offers potential for novel therapeutic strategies, aiming to modulate these proteins to halt or reverse the progression of kidney disease., (© 2024 The Author(s). Published by S. Karger AG, Basel.)

Published
2024
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