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17 results for Marouillat,+Sylviane

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A role for SUMOylation in the Formation and Cellular Localization of TDP-43 Aggregates in Amyotrophic Lateral Sclerosis
Author / Creator:Maurel, Cindy ; Chami, Anna A. ; Thépault, Rose-Anne ; Marouillat, Sylviane ; Blasco, Hélène ; Corcia, Philippe ; Andres, Christian R. ; Vourc’h, Patrick
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2020-03, Vol.57 (3), p.1361-1373
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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth
Author / Creator:Jeanne, Médéric ; Vuillaume, Marie-Laure ; Ung, Dévina C. ; Vancollie, Valerie E. ; Wagner, Christel ; Collins, Stephan C. ; Vonwill, Sandrine ; Haye, Damien ; Chelloug, Nora ; Pfundt, Rolph ; Kummeling, Joost ; Moizard, Marie-Pierre ; Marouillat, Sylviane ; Kleefstra, Tjitske ; Yalcin, Binnaz ; Laumonnier, Frédéric ; Toutain, Annick
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-06, Vol.140 (6), p.885-896
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Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders
Author / Creator:Bitar, Tania ; Hleihel, Walid ; Marouillat, Sylviane ; Vonwill, Sandrine ; Vuillaume, Marie‐Laure ; Soufia, Michel ; Vourc'h, Patrick ; Laumonnier, Frederic ; Andres, Christian R.
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e786-n/a
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The Roles of NEDD4 Subfamily of HECT E3 Ubiquitin Ligases in Neurodevelopment and Neurodegeneration
Author / Creator:Haouari, Shanez ; Vourc'h, Patrick ; Jeanne, Médéric ; Marouillat, Sylviane ; Veyrat-Durebex, Charlotte ; Lanznaster, Débora ; Laumonnier, Frédéric ; Corcia, Philippe ; Blasco, Hélène ; Andres, Christian R
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-03, Vol.23 (7), p.3882
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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Author / Creator:Ung, Dévina C ; Pietrancosta, Nicolas ; Badillo, Elena Baz ; Raux, Brigitt ; Tapken, Daniel ; Zlatanovic, Andjela ; Doridant, Adrien ; Pode-Shakked, Ben ; Raas-Rothschild, Annick ; Elpeleg, Orly ; Abu-Libdeh, Bassam ; Hamed, Nasrin ; Papon, Marie-Amélie ; Marouillat, Sylviane ; Thépault, Rose-Anne ; Stevanin, Giovanni ; Elegheert, Jonathan ; Letellier, Mathieu ; Hollmann, Michael ; Lambolez, Bertrand ; Tricoire, Ludovic ; Toutain, Annick ; Hepp, Régine ; Laumonnier, Frédéric
Publisher:Nature Publishing Group
Journal title:Molecular psychiatry, 2024-04, Vol.29 (4), p.1205-1215
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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Author / Creator:Ung, Dévina C. ; Pietrancosta, Nicolas ; Badillo, Elena Baz ; Raux, Brigitt ; Tapken, Daniel ; Zlatanovic, Andjela ; Doridant, Adrien ; Pode-Shakked, Ben ; Raas-Rothschild, Annick ; Elpeleg, Orly ; Abu-Libdeh, Bassam ; Hamed, Nasrin ; Papon, Marie-Amélie ; Marouillat, Sylviane ; Thépault, Rose-Anne ; Stevanin, Giovanni ; Elegheert, Jonathan ; Letellier, Mathieu ; Hollmann, Michael ; Lambolez, Bertrand ; Tricoire, Ludovic ; Toutain, Annick ; Hepp, Régine ; Laumonnier, Frédéric
Publisher:London: Nature Publishing Group UK
Journal title:Molecular psychiatry, 2024-04, Vol.29 (4), p.1205-1215
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Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1
Author / Creator:Haouari, Shanez ; Andres, Christian Robert ; Lanznaster, Debora ; Marouillat, Sylviane ; Brulard, Céline ; Dangoumau, Audrey ; Ung, Devina ; Veyrat-Durebex, Charlotte ; Laumonnier, Frédéric ; Blasco, Hélène ; Couratier, Philippe ; Corcia, Philippe ; Vourc'h, Patrick
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-01, Vol.24 (2), p.1268
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Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease
Author / Creator:Bedja-Iacona, Léa ; Richard, Elodie ; Marouillat, Sylviane ; Brulard, Céline ; Alouane, Tarek ; Beltran, Stéphane ; Andres, Christian R ; Blasco, Hélène ; Corcia, Philippe ; Veyrat-Durebex, Charlotte ; Vourc'h, Patrick
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-08, Vol.25 (16), p.8664
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Dysregulations of Expression of Genes of the Ubiquitin/SUMO Pathways in an In Vitro Model of Amyotrophic Lateral Sclerosis Combining Oxidative Stress and SOD1 Gene Mutation
Author / Creator:Dangoumau, Audrey ; Marouillat, Sylviane ; Coelho, Roxane ; Wurmser, François ; Brulard, Céline ; Haouari, Shanez ; Laumonnier, Frédéric ; Corcia, Philippe ; Andres, Christian R ; Blasco, Hélène ; Vourc'h, Patrick
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2021-02, Vol.22 (4), p.1796
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Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome Sequencing
Author / Creator:Gerges, Perla ; Bitar, Tania ; Laumonnier, Frederic ; Marouillat, Sylviane ; Nemer, Georges ; Andres, Christian R ; Hleihel, Walid
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-01, Vol.13 (2), p.186
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Effect of familial clustering in the genetic screening of 235 French ALS families
Author / Creator:Corcia, Philippe ; Camu, William ; Brulard, Celine ; Marouillat, Sylviane ; Couratier, Philippe ; Camdessanché, Jean-Philippe ; Cintas, Pascal ; Verschueren, Annie ; Soriani, Marie-Helene ; Desnuelle, Claude ; Fleury, Marie-Céline ; Guy, Nathalie ; Cassereau, Julien ; Viader, Fausto ; Pittion-Vouyovitch, Sophie ; Danel, Veronique ; Kolev, Ivan ; Le Masson, Gwendal ; Beltran, Stephane ; Salachas, Francois ; Bernard, Emilien ; Pradat, Pierre-François ; Blasco, Hélène ; Lanznaster, Débora ; Hergesheimer, Rudolph ; Laumonnier, Frederic ; Andres, Christian R ; Meininger, Vincent ; Vourc'h, Patrick
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2021-05, Vol.92 (5), p.479-484
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Dynamic Expression of Genes Encoding Ubiquitin Conjugating Enzymes (E2s) During Neuronal Differentiation and Maturation: Implications for Neurodevelopmental Disorders and Neurodegenerative Diseases
Author / Creator:Paubel, Agathe ; Marouillat, Sylviane ; Dangoumau, Audrey ; Maurel, Cindy ; Haouari, Shanez ; Blasco, Hélène ; Corcia, Philippe ; Laumonnier, Frédéric ; Andres, Christian R ; Vourc'h, Patrick
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-11, Vol.15 (11), p.1381
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Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism
Author / Creator:Patin, Franck ; Corcia, Philippe ; Vourc’h, Patrick ; Nadal-Desbarats, Lydie ; Baranek, Thomas ; Goossens, Jean-François ; Marouillat, Sylviane ; Dessein, Anne-Frédérique ; Descat, Amandine ; Madji Hounoum, Blandine ; Bruno, Clément ; Leman, Samuel ; Andres, Christian R ; Blasco, Hélène
Publisher:New York: Springer US
Journal title:Molecular neurobiology, 2017-09, Vol.54 (7), p.5361-5374
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Combined Metabolomics and Transcriptomics Approaches to Assess the IL-6 Blockade as a Therapeutic of ALS: Deleterious Alteration of Lipid Metabolism
Author / Creator:Patin, Franck ; Baranek, Thomas ; Vourc’h, Patrick ; Nadal-Desbarats, Lydie ; Goossens, Jean-François ; Marouillat, Sylviane ; Dessein, Anne-Frédérique ; Descat, Amandine ; Hounoum, Blandine Madji ; Bruno, Clément ; Watier, Hervé ; Si-Tahar, Mustafa ; Leman, Samuel ; Lecron, Jean-Claude ; Andres, Christian R. ; Corcia, Philippe ; Blasco, Hélène
Publisher:New York: Springer US
Journal title:Neurotherapeutics, 2016-10, Vol.13 (4), p.905-917
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N-Terminal Fragments of TDP-43-In Vitro Analysis and Implication in the Pathophysiology of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration
Author / Creator:Chami, Anna A ; Bedja-Iacona, Léa ; Richard, Elodie ; Lanznaster, Debora ; Marouillat, Sylviane ; Veyrat-Durebex, Charlotte ; Andres, Christian R ; Corcia, Philippe ; Blasco, Hélène ; Vourc'h, Patrick
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-09, Vol.15 (9), p.1157
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ArticlesPeer ReviewedFull Text
Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism
Author / Creator:Patin, Franck ; Corcia, Philippe ; Vourc’h, Patrick ; Nadal-Desbarats, Lydie ; Baranek, Thomas ; Goossens, Jean-François ; Marouillat, Sylviane ; Dessein, Anne-Frédérique ; Descat, Amandine ; Madji Hounoum, Blandine ; Bruno, Clément ; Leman, Samuel ; Andres, Christian ; Blasco, Hélène
Publisher:Humana Press
Journal title:Molecular neurobiology, 2017-09, Vol.54 (7), p.5361-5374
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Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75
Author / Creator:Dangoumau, Audrey ; Marouillat, Sylviane ; Burlaud Gaillard, Julien ; Uzbekov, Rustem ; Veyrat-Durebex, Charlotte ; Blasco, Hélène ; Arnoult, Christophe ; Corcia, Philippe ; Andres, Christian R. ; Vourc'h, Patrick
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neuro-degenerative diseases, 2016-01, Vol.16 (3-4), p.161-171
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A role for SUMOylation in the Formation and Cellular Localization of TDP-43 Aggregates in Amyotrophic Lateral Sclerosis

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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth

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Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders

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The Roles of NEDD4 Subfamily of HECT E3 Ubiquitin Ligases in Neurodevelopment and Neurodegeneration

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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses

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Study of Ubiquitin Pathway Genes in a French Population with Amyotrophic Lateral Sclerosis: Focus on HECW1 Encoding the E3 Ligase NEDL1

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Post-Translational Variants of Major Proteins in Amyotrophic Lateral Sclerosis Provide New Insights into the Pathophysiology of the Disease

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Dysregulations of Expression of Genes of the Ubiquitin/SUMO Pathways in an In Vitro Model of Amyotrophic Lateral Sclerosis Combining Oxidative Stress and SOD1 Gene Mutation

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Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome Sequencing

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Effect of familial clustering in the genetic screening of 235 French ALS families

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Dynamic Expression of Genes Encoding Ubiquitin Conjugating Enzymes (E2s) During Neuronal Differentiation and Maturation: Implications for Neurodevelopmental Disorders and Neurodegenerative Diseases

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Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism

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Combined Metabolomics and Transcriptomics Approaches to Assess the IL-6 Blockade as a Therapeutic of ALS: Deleterious Alteration of Lipid Metabolism

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N-Terminal Fragments of TDP-43-In Vitro Analysis and Implication in the Pathophysiology of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

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Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism

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Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75

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