المؤلفون: Santos, M, Morais, S, Pereira, C, Sequeiros, J, Alonso, I

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Codon, Nonsense, HEK293 Cells, Humans, Loss of Function Mutation, Microscopy, Fluorescence, Mitochondria / metabolism, Parkinsonian Disorders / epidemiology, Parkinsonian Disorders / genetics, Portugal / epidemiology, Proteasome Endopeptidase Complex / metabolism, Protein Aggregation, Pathological, Protein Domains, Protein Folding, Protein Processing, Post-Translational, Protein Stability, Protein Transport, Recombinant Proteins / metabolism, Solubility, Spain / epidemiology, Subcellular Fractions / metabolism, Ubiquitin-Protein Ligases / genetics, Ubiquitin-Protein Ligases / metabolism, Ubiquitination

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F87189%2F2012/PT; info:eu-repo/grantAgreement/FCT/SFRH/SFRH%2FBD%2F90048%2F2012/PT; Scientific Reports, vol.9(1):16150; https://www.nature.com/articles/s41598-019-52534-6Test; https://hdl.handle.net/10216/139009Test

الإتاحة: https://doi.org/10.1038/s41598-019-52534-6Test
https://hdl.handle.net/10216/139009Test

المؤلفون: Florian, Rahel, Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario, Vijfhuizen, Lisanne, Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp, Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Alexandre, Mathieu, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, Leguern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark, Bahlo, Melanie, Gecz, Jozef, Corbett, Mark, Tijssen, Marina, van den Maagdenberg, Arn, Depienne, Christel

المساهمون: Institute of Human Genetics - Institut für Humangenetik Essen, Universitätsklinikum Essen Universität Duisburg-Essen (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen Universität Duisburg-Essen (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen Essen, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Amsterdam Neuroscience Pays-Bas, Vrije Universiteit Amsterdam Amsterdam (VU)-University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-VU University Medical Center Amsterdam, CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne Cologne (CMMC), University Hospital of Cologne Cologne, Cologne Center for Genomics Cologne (CCG), University of Cologne, 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), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden = Leiden University, Centre de référence des épilepsies rares CHRU Strasbourg (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie Strasbourg, Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Nouvel Hôpital Civil de Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), School of Biological Sciences Adelaïde, University of Adelaide, Goethe University Frankfurt, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital Berlin, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), South Australian Health and Medical Research Institute Adelaide (SAHMRI), University Medical Center Groningen Groningen (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the “Investissements d’Avenir” programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: Neurodegenerative diseases, Neurological disorders, Epilepsy, Genomic instability, MESH: Adolescent, MESH: Adult, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Young Adult, MESH: Aged, MESH: Chromosome Mapping, MESH: DNA Repeat Expansion, MESH: Epilepsies, Myoclonic/genetics, MESH: Female, MESH: Humans, MESH: Introns, MESH: Male, MESH: Membrane Proteins/genetics, MESH: Middle Aged, MESH: Pedigree, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31664039; pasteur-02562487; https://pasteur.hal.science/pasteur-02562487Test; https://pasteur.hal.science/pasteur-02562487/documentTest; https://pasteur.hal.science/pasteur-02562487/file/Unstable%20TTTTATTTCA%20expansions%20in%20MARCH6%20are%20associated.pdfTest; PUBMED: 31664039; PUBMEDCENTRAL: PMC6820781

الإتاحة: https://doi.org/10.1038/s41467-019-12763-9Test
https://pasteur.hal.science/pasteur-02562487Test
https://pasteur.hal.science/pasteur-02562487/documentTest
https://pasteur.hal.science/pasteur-02562487/file/Unstable%20TTTTATTTCA%20expansions%20in%20MARCH6%20are%20associated.pdfTest

المؤلفون: Chen, Huimei, Moreno-Moral, Aida, Pesce, Francesco, Devapragash, Nithya, Mancini, Massimiliano, Heng, Ee Ling, Rotival, Maxime, Srivastava, Prashant, K, Harmston, Nathan, Shkura, Kirill, Rackham, Owen, J L, Yu, Wei-Ping, Sun, Xi-Ming, Gui Zhen Tee, Nicole, Li San Tan, Elisabeth, Barton, Paul, J R, Felkin, Leanne, E, Lara-Pezzi, Enrique, Angelini, Gianni, Beltrami, Cristina, Pravenec, Michal, Schafer, Sebastian, Bottolo, Leonardo, Hubner, Norbert, Emanueli, Costanza, Cook, Stuart, Petretto, Enrico

المساهمون: Cardiovascular and Metabolic Disorders Singapor (cvmd), Duke-NUS Medical School Singapore, Università degli studi di Bari Aldo Moro = University of Bari Aldo Moro (UNIBA), Ospedale San Giovanni di Dio, Firenze, National Heart and Lung Institute London (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Génétique Evolutive Humaine - Human Evolutionary Genetics, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Faculty of Medicine London, UK, Imperial College London, Agency for science, technology and research Singapore (A*STAR), Institute of Molecular and Cell Biology, National University of Singapore (NUS)-Agency for science, technology and research Singapore (A*STAR), MRC London Institute of Medical Sciences (LMC), National Heart Centre Singapore (NHCS), Royal Brompton and Harefield NHS Foundation Trust, Cardiovascular Research Centre London, Centro Nacional de Investigaciones Cardiovasculares Carlos III Madrid, Spain (CNIC), Instituto de Salud Carlos III Madrid (ISC), University of Bristol Bristol, Institute of Physiology Prague, Czech Academy of Sciences Prague (CAS), University of Cambridge UK (CAM), The Alan Turing Institute, MRC Biostatistics Unit Cambridge, UK, Max Delbrück Center for Molecular Medicine Berlin (MDC), Helmholtz-Gemeinschaft = Helmholtz Association, German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), Charité - UniversitätsMedizin = Charité - University Hospital Berlin, The research was primarily supported by National Medical Research Council (NMRC) Singapore grant NMRC/CBRG/0106/2016 (to E.P.) and the British Heart Foundation (BHF) Ph.D. Studentship grant FS/11/25/28740 (to E.P). We acknowledge additional funding support from European Union FP7 CardioNeT-ITN-289600 (to E.L.-P., S.A.C., and P.J.R.B.), Heart Research UK (to P.J.R.B.), NIHR CV BRU of Royal Brompton and Harefield, NHS Foundation Trust (to S.A.C. and P.J.R.B.), BHF (to S.A.C.), Leducq Foundation (to S.A.C.), MRC UK (to S.A.C.), BHF Program Grant no. RG/15/5/31446 (to C.E. and E.P.). M.P. was supported by Praemium Academiae award of the Czech Academy of Sciences and grant 14-36804G from the Czech Science Foundation., We wish to thank Dr. Jacques Behmoaras for contributing critical and constructive comments to the manuscript., European Project: 289600,EC:FP7:PEOPLE,FP7-PEOPLE-2011-ITN,CARDIONET(2012)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: Ubiquitin ligases, Cardiomyopathies, MESH: Adolescent, MESH: Adult, MESH: Fibrosis / genetics, MESH: Fibrosis / metabolism, MESH: Mice, Transgenic, MESH: Gene Regulatory Networks, MESH: Genetic Predisposition to Disease* / genetics, MESH: Heart Diseases / genetics, MESH: Heart Diseases / metabolism, MESH: Humans, MESH: Male, MESH: Ubiquitin-Protein Ligases / metabolism, MESH: Middle Aged, MESH: Aged, MESH: Protein Isoforms, MESH: Smad2 Protein / genetics, MESH: Smad2 Protein / metabolism, MESH: Transforming Growth Factor beta / metabolism, MESH: Ubiquitin-Protein Ligases / genetics, MESH: Young Adult, MESH: Gene Expression Regulation, MESH: Animals, MESH: Cardiomyopathies / genetics, MESH: Cardiomyopathies / metabolism, MESH: Extracellular Matrix Proteins / metabolism, MESH: Female, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31399586; info:eu-repo/grantAgreement/EC/FP7/289600/EU/Translational Training network on the Cellular and Molecular Bases of Heart Homeostasis and Repair/CARDIONET; pasteur-02868982; https://pasteur.hal.science/pasteur-02868982Test; https://pasteur.hal.science/pasteur-02868982/documentTest; https://pasteur.hal.science/pasteur-02868982/file/Chen_Nature%20Communication_2019.pdfTest; PUBMED: 31399586; PUBMEDCENTRAL: PMC6689010

الإتاحة: https://doi.org/10.1038/s41467-019-11551-9Test
https://pasteur.hal.science/pasteur-02868982Test
https://pasteur.hal.science/pasteur-02868982/documentTest
https://pasteur.hal.science/pasteur-02868982/file/Chen_Nature%20Communication_2019.pdfTest

المؤلفون: Andrio, Emilie, Lotte, Romain, Hamaoui, Daniel, Cherfils, Jacqueline, Doye, Anne, Daugaard, Mads, Sørensen, Poul, Bost, Frédéric, Ruimy, Raymond, Mettouchi, Amel, Lemichez, Emmanuel

المساهمون: Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UniCA), Toxines bactériennes dans la relation hôtes-pathogènes, Université Nice Sophia Antipolis (1965 - 2019) (UNS)-IFR50-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UniCA), Laboratoire de Bactériologie CHU Nice, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital Archet 2 Nice (CHU), Laboratoire de Biologie et de Pharmacologie Appliquée (LBPA), École normale supérieure - Cachan (ENS Cachan)-Centre National de la Recherche Scientifique (CNRS), University of British Columbia (UBC), Vancouver Prostate Centre Vancouver General Hospital (VPC), Vancouver General Hospital, BC Cancer Agency Research Centre (BCCRC), Signalisation moléculaire et obésité, Université Nice Sophia Antipolis (1965 - 2019) (UNS)-IFR50-Institut National de la Santé et de la Recherche Médicale (INSERM), This work was supported by INSERM, CNRS and fundings from the Ligue Nationale Contre le Cancer (LNCC, équipe labellisée), Association pour la Recherche sur le Cancer (ARC-SFI20111203659 & ARC-SFI20111203671), a fellowship LNCC to D.H., a PhD fellowship from the “Fondation pour la Recherche Médicale” (FRM-FDM20150632804) to R.L., We are grateful to Melissa Sivaneson, Frédéric Reinier and Patrick Munro for technical help and fruitful discussions. We thank Orane Visvikis for critical reading of the manuscript.

المصدر: ISSN: 2045-2322.

مصطلحات موضوعية: Proteolysis, Cell biology, MESH: Amino Acid Sequence, MESH: Cell Line, MESH: Models, Molecular, MESH: Mutant Proteins/chemistry, MESH: Mutation, Missense/genetics, MESH: Neoplasms/genetics, MESH: Protein Binding, MESH: Protein Domains, MESH: Structure-Activity Relationship, MESH: Ubiquitin-Protein Ligases/chemistry, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Ubiquitin-Protein Ligases/metabolism, MESH: Ubiquitination, MESH: rac1 GTP-Binding Protein/metabolism, MESH: Cell Proliferation, MESH: Humans, [SDV]Life Sciences [q-bio], [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, [SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriology, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28317937; pasteur-02448600; https://pasteur.hal.science/pasteur-02448600Test; https://pasteur.hal.science/pasteur-02448600/documentTest; https://pasteur.hal.science/pasteur-02448600/file/Identification_of_cancer_associated_missense_mutations.pdfTest; PUBMED: 28317937; PUBMEDCENTRAL: PMC5357957

الإتاحة: https://doi.org/10.1038/srep44779Test
https://pasteur.hal.science/pasteur-02448600Test
https://pasteur.hal.science/pasteur-02448600/documentTest
https://pasteur.hal.science/pasteur-02448600/file/Identification_of_cancer_associated_missense_mutations.pdfTest

المؤلفون: Ting Lu, Li Qiao, Ye Yang, Ye Hu, Wang Wang, Mengjie Guo, Rui Li, Anja Seckinger, Fenghuang Zhan, Dirk Hose, Rongfang Wei, Miaomiao Shao, Chunyan Gu

المساهمون: Hematology, Basic (bio-) Medical Sciences

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Ubiquitin-Protein Ligases, Multiple Myeloma/drug therapy, Cancer metastasis, Antineoplastic Agents, Aggressive disease, Case-control studies, Gene mutation, Bortezomib, 03 medical and health sciences, 0302 clinical medicine, medicine, Tumor Cells, Cultured, Humans, Ubiquitin-Protein Ligases/genetics, Multiple myeloma, Cyclin-Dependent Kinase Inhibitor p27/genetics, hematology, Philosophy, Ubiquitination, medicine.disease, Prognosis, Proteasome Inhibitors/pharmacology, Gene Expression Regulation, Neoplastic, Transplantation, Survival Rate, 030104 developmental biology, Bortezomib/pharmacology, cell proliferation, Oncology, Drug Resistance, Neoplasm, 030220 oncology & carcinogenesis, Gene Expression Regulation, Neoplastic/drug effects, Proteasome inhibitor, Christian ministry, Multiple Myeloma, Proteasome Inhibitors, Humanities, Resistance (creativity), Antineoplastic Agents/pharmacology, Cyclin-Dependent Kinase Inhibitor p27, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43f1d396323e359453dbfdfee2d99497Test
https://hdl.handle.net/20.500.14017/4caed97a-4e5f-44c8-9940-e891ed37fe26Test

المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.

المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C., Institute of Human Genetics - Institut für Humangenetik [Essen], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen)-Universitat Duisberg-Essen, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA), Amsterdam Neuroscience [Pays-Bas], Vrije Universiteit Amsterdam [Amsterdam] (VU)-University of Amsterdam [Amsterdam] (UvA)-VU University Medical Center [Amsterdam], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre for Molecular Medicine Cologne [Cologne] (CMMC), University Hospital of Cologne [Cologne], Cologne Center for Genomics [Cologne] (CCG), University of Cologne, 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), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), genomic vision, Leiden University Medical Center (LUMC), Universiteit Leiden, Centre de référence des épilepsies rares [CHRU Strasbourg] (CRéER), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Service de Neurologie [Strasbourg], CHU Strasbourg-Hopital Civil, School of Biological Sciences [Adelaïde], University of Adelaide, Goethe-University Frankfurt am Main, Philipps Universität Marburg = Philipps University of Marburg, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Melbourne, Epilepsy Research Centre, University of Calgary, Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), University Medical Center Groningen [Groningen] (UMCG), This study has been financially supported by three different grants from the Fondation Maladies rares to C.D. (2009, 2010, 2016), Assistance Publique des Hôpitaux de Paris (APHP), INSERM, the 'Investissements d’Avenir' programme ANR-10-IAIHU-06 (IHU-A-ICM), University Duisburg-Essen and University Hospital Essen. M.B. was supported by an Australian National Health and Medical Research Council (NHMRC) Program Grant (GNT1054618) and an NHMRC Senior Research Fellowship (GNT1102971). This work was also supported by the Victorian Government’s Operational Infrastructure Support Program and the NHMRC Independent Research Institute Infrastructure Support Scheme (IRIISS). Laura Canafoglia: Member of the European Reference Network on Rare and Complex epilepsies, ERN EpiCARE., We thank the families for their participation in this study, Agnès Rastetter (ICM, Paris, France) for RNA extraction, and Emmanuelle Apartis (Hôpital Saint-Antoine, Paris, France) for electrophysiological assessment of Family 1. DNA extraction and cell culture of lymphoblasts have been performed at the DNA and cell bank of ICM (Paris, France). RNA-seq has been performed on the GenomEast platform of IGBMC, Illkirch, France. WGS has been performed by the Centre National de Recherche en Génomique Humaine (CNRGH) Institut de Biologie François Jacob, Evry, France. We thank Jean-Louis Mandel and Nicolas Charlet-Berguerand (IGBMC, Strasbourg, France), Cécile Cazeneuve (Hôpital Pitié-Salpêtrière, Paris, France), Charles Marcaillou (Integragen, Evry, France) and Isabel Silveira (Porto, Portugal) for valuable discussions., FAME consortium : Berkovic SF, Bisulli F, Brancati F, Canafoglia L, Casari G, Guerrini R, Ishiura H, Licchetta L, Mei D, Pippucci T, Sadleir L, Scheffer IE, Striano P, Tinuper P, Tsuji S, Zara F., Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC), 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), Centre National de Recherche en Génomique Humaine (CNRGH), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), RWTH Aachen University, Universität Duisburg-Essen [Essen], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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 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)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Philipps University of Marburg, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris]-Université de Paris (UP), Hôpital Gui de Chauliac, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Rahel T. Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D.M. Avarello, Lisanne S. Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S. Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, FAME consortium, Eric LeGuern, Karl Martin Klein, Pierre Labauge, Mark F. Bennett, Melanie Bahlo, Jozef Gecz, Mark A. Corbett, Marina A.J. Tijssen, Arn M.J.M. van den Maagdenberg, Christel Depienne, Francesca Bisulli, Laura Licchetta, Paolo Tinuper, MATHIEU, Alexandre, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (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)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP)

المصدر: Nature Communications
Nature Communications, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications, Nature Publishing Group, 2019, 10 (1), pp.4919. ⟨10.1038/s41467-019-12763-9⟩
Nature Communications 10, 4919 (2019). doi:10.1038/s41467-019-12763-9

مصطلحات موضوعية: Male, MESH: Introns, [SDV]Life Sciences [q-bio], Medizin, MESH: DNA Repeat Expansion, Epilepsies, Myoclonic, [SDV.GEN] Life Sciences [q-bio]/Genetics, MARCH6, expansion, MESH: Ubiquitin-Protein Ligases/genetics, MESH: Aged, MESH: Middle Aged, DNA Repeat Expansion, Neurodegenerative diseases, MESH: Epilepsies, Myoclonic, Chromosome Mapping, Middle Aged, MESH: Epilepsies, Myoclonic/genetics, Pedigree, MESH: Young Adult, Female, ddc:500, MESH: Membrane Proteins, Technology Platforms, Genomic instability, Adult, Adolescent, MESH: Pedigree, Ubiquitin-Protein Ligases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Familial Adult Myoclonic Epilepsy type 3, Article, Young Adult, Humans, Aged, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Epilepsy, Membrane Proteins, MESH: Adult, MESH: Membrane Proteins/genetics, MESH: Ubiquitin-Protein Ligases, MESH: Male, Introns, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Chromosome Mapping, MESH: Female, Neurological disorders

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ec2c892a3045ae0244d68ba44823587aTest
http://edoc.mdc-berlin.de/20584/2/20584suppl.zipTest

المؤلفون: Jorge Sequeiros, Sara Morais, Isabel Alonso, Conceição Pereira, Mariana Santos

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Parkinsonian Disorders / genetics, Protein Folding, Parkinson's disease, lcsh:Medicine, Parkinsonian Disorders / epidemiology, Parkin, 0302 clinical medicine, Ubiquitin, Loss of Function Mutation, Portugal / epidemiology, Ubiquitin-Protein Ligases / genetics, lcsh:Science, Genetics, 0303 health sciences, Multidisciplinary, biology, Protein Stability, Recombinant Proteins / metabolism, Mitochondria / metabolism, Mitochondrial proteins, Phenotype, Recombinant Proteins, 3. Good health, Ubiquitin ligase, Mitochondria, Protein Transport, Mechanisms of disease, Codon, Nonsense, Subcellular Fractions, Proteasome Endopeptidase Complex, Ubiquitin-Protein Ligases, Protein domain, Protein Aggregation, Pathological, Article, 03 medical and health sciences, Parkinsonian Disorders, Protein Domains, Ubiquitin-Protein Ligases / metabolism, Humans, Loss function, 030304 developmental biology, Portugal, Proteasome Endopeptidase Complex / metabolism, Spain / epidemiology, HEK 293 cells, lcsh:R, Ubiquitination, Subcellular Fractions / metabolism, nervous system diseases, HEK293 Cells, Proteasome, Microscopy, Fluorescence, Solubility, Spain, biology.protein, lcsh:Q, Protein Processing, Post-Translational, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f32870f9dfa24124de834d74e02e606Test
https://hdl.handle.net/10216/139009Test

المؤلفون: Pertel, Thomas, Hausmann, Stéphane, Morger, Damien, Züger, Sara, Guerra, Jessica, Lascano, Josefina, Reinhard, Christian, Santoni, Federico A., Uchil, Pradeep D., Chatel, Laurence, Bisiaux, Aurélie, Albert, Matthew L., Strambio-De-Castillia, Caterina, Mothes, Walther, Pizzato, Massimo, Grütter, Markus G., Luban, Jeremy

المساهمون: Département de Microbiologie et Médecine moléculaire, Université de Genève = University of Geneva (UNIGE), Universität Zürich Zürich = University of Zurich (UZH), Section of Microbial Pathogenesis, Yale School of Medicine New Haven, Connecticut (YSM), Novimmune SA, Immunobiologie des Cellules Dendritiques, Institut Pasteur Paris (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), This work was supported by NIH grant RO1AI59159 to J.L., NIH grant R21AI087467 to W.M., Swiss National Science Foundation grant 3100A0-128655 to J.L. and 3100A0-122342 to M.G.

المصدر: ISSN: 0028-0836.

مصطلحات موضوعية: MESH: Capsid/chemistry, MESH: Capsid/immunology, MESH: Retroviridae/chemistry, MESH: Retroviridae/immunology, MESH: Carrier Proteins/genetics, MESH: Signal Transduction/drug effects, MESH: Signal Transduction/immunology, MESH: Transcription Factor AP-1/metabolism, MESH: Transcription Factors/metabolism, MESH: Ubiquitin/metabolism, MESH: Ubiquitin-Conjugating Enzymes/metabolism, MESH: Ubiquitin-Protein Ligases/genetics, MESH: HumansImmunity, Innate/immunology, MESH: Ubiquitin-Protein Ligases/immunology, MESH: Ubiquitin-Protein Ligases/metabolism, MESH: Carrier Proteins/immunology, MESH: Carrier Proteins/metabolism, MESH: Cell Line, MESH: Enzyme Activation, MESH: HEK293 Cells, MESH: HIV-1/chemistry, MESH: HIV-1/immunology, MESH: Lipopolysaccharides/immunology, MESH: Lipopolysaccharides/pharmacology, MESH: MAP Kinase Kinase Kinases/metabolism, MESH: NF-kappa B/metabolism, MESH: Protein Binding, MESH: Receptors, Pattern Recognition/immunology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/21512573; pasteur-01402086; https://pasteur.hal.science/pasteur-01402086Test; PUBMED: 21512573; PUBMEDCENTRAL: PMC3081621

الإتاحة: https://doi.org/10.1038/nature09976Test
https://pasteur.hal.science/pasteur-01402086Test