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Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation
Naumann, Marcel, Pal, Arun, Goswami, Anand, Lojewski, Xenia, Japtok, Julia, Vehlow, Anne, Naujock, Maximilian, Günther, René, Jin, Mengmeng, Stanslowsky, Nancy, Reinhardt, Peter, Sterneckert, Jared, Frickenhaus, Marie, Pan-Montojo, Francisco, Storkebaum, Erik, Poser, Ina, Freischmidt, Axel, Weishaupt, Jochen H., Holzmann, Karlheinz, Troost, Dirk, Ludolph, Albert C., Boeckers, Tobias M., Liebau, Stefan, Petri, Susanne, Cordes, Nils, Hyman, Anthony A., Wegner, Florian, Grill, Stephan W., Weis, Joachim, Storch, Alexander, Hermann, Andreas
Published in Nature communications (23.01.2018)
Published in Nature communications (23.01.2018)
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Journal Article
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Leblond, Claire S., Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M., Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I. Carina, Rappold, Gudrun A., Holt, Richard, Monaco, Anthony P., Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J., Boeckers, Tobias M., Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W., Rouleau, Guy A., Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas
Published in PLoS genetics (01.09.2014)
Published in PLoS genetics (01.09.2014)
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Journal Article
Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies
Grabrucker, Andreas M., Schmeisser, Michael J., Schoen, Michael, Boeckers, Tobias M.
Published in Trends in cell biology (01.10.2011)
Published in Trends in cell biology (01.10.2011)
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Journal Article
Dysfunctional cerebellar Purkinje cells contribute to autism-like behaviour in Shank2-deficient mice
Peter, Saša, ten Brinke, Michiel M., Stedehouder, Jeffrey, Reinelt, Claudia M., Wu, Bin, Zhou, Haibo, Zhou, Kuikui, Boele, Henk-Jan, Kushner, Steven A., Lee, Min Goo, Schmeisser, Michael J., Boeckers, Tobias M., Schonewille, Martijn, Hoebeek, Freek E., De Zeeuw, Chris I.
Published in Nature communications (01.09.2016)
Published in Nature communications (01.09.2016)
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Journal Article
FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis
Picchiarelli, Gina, Demestre, Maria, Zuko, Amila, Been, Marije, Higelin, Julia, Dieterlé, Stéphane, Goy, Marc-Antoine, Mallik, Moushami, Sellier, Chantal, Scekic-Zahirovic, Jelena, Zhang, Li, Rosenbohm, Angela, Sijlmans, Céline, Aly, Amr, Mersmann, Sina, Sanjuan-Ruiz, Inmaculada, Hübers, Annemarie, Messaddeq, Nadia, Wagner, Marina, van Bakel, Nick, Boutillier, Anne-Laurence, Ludolph, Albert, Lagier-Tourenne, Clotilde, Boeckers, Tobias M., Dupuis, Luc, Storkebaum, Erik
Published in Nature neuroscience (01.11.2019)
Published in Nature neuroscience (01.11.2019)
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Journal Article
A CRHR1 antagonist prevents synaptic loss and memory deficits in a trauma-induced delirium-like syndrome
Cursano, Silvia, Battaglia, Chiara R., Urrutia-Ruiz, Carolina, Grabrucker, Stefanie, Schön, Michael, Bockmann, Jürgen, Braumüller, Sonja, Radermacher, Peter, Roselli, Francesco, Huber-Lang, Markus, Boeckers, Tobias M.
Published in Molecular psychiatry (01.08.2021)
Published in Molecular psychiatry (01.08.2021)
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Journal Article
Expression profiles of the autism-related SHANK proteins in the human brain
Woelfle, Sarah, Pedro, Maria T., Wagner, Jan, Schön, Michael, Boeckers, Tobias M.
Published in BMC biology (13.11.2023)
Published in BMC biology (13.11.2023)
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Journal Article
Phelan-McDermid syndrome: a classification system after 30 years of experience
Phelan, Katy, Boccuto, Luigi, Powell, Craig M., Boeckers, Tobias M., van Ravenswaaij-Arts, Conny, Rogers, R. Curtis, Sala, Carlo, Verpelli, Chiara, Thurm, Audrey, Bennett, William E., Winrow, Christopher J., Garrison, Sheldon R., Toro, Roberto, Bourgeron, Thomas
Published in Orphanet journal of rare diseases (29.01.2022)
Published in Orphanet journal of rare diseases (29.01.2022)
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Journal Article
Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin–Neuroligin-Mediated Transsynaptic Signaling
Arons, Magali H., Thynne, Charlotte J., Grabrucker, Andreas M., Li, Dong, Schoen, Michael, Cheyne, Juliette E., Boeckers, Tobias M., Montgomery, Johanna M., Garner, Craig C.
Published in The Journal of neuroscience (24.10.2012)
Published in The Journal of neuroscience (24.10.2012)
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Journal Article
4‐Aminopyridine Induced Activity Rescues Hypoexcitable Motor Neurons from Amyotrophic Lateral Sclerosis Patient‐Derived Induced Pluripotent Stem Cells
Naujock, Maximilian, Stanslowsky, Nancy, Bufler, Sebastian, Naumann, Marcel, Reinhardt, Peter, Sterneckert, Jared, Kefalakes, Ekaterini, Kassebaum, Carola, Bursch, Franziska, Lojewski, Xenia, Storch, Alexander, Frickenhaus, Marie, Boeckers, Tobias M., Putz, Stefan, Demestre, Maria, Liebau, Stefan, Klingenstein, Moritz, Ludolph, Albert C., Dengler, Reinhard, Kim, Kwang‐Soo, Hermann, Andreas, Wegner, Florian, Petri, Susanne
Published in Stem cells (Dayton, Ohio) (01.06.2016)
Published in Stem cells (Dayton, Ohio) (01.06.2016)
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Journal Article
Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation
Catanese, Alberto, Olde Heuvel, Florian, Mulaw, Medhanie, Demestre, Maria, Higelin, Julia, Barbi, Gotthold, Freischmidt, Axel, Weishaupt, Jochen H., Ludolph, Albert C., Roselli, Francesco, Boeckers, Tobias M.
Published in Autophagy (03.10.2019)
Published in Autophagy (03.10.2019)
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Journal Article
In-depth protein profiling of the postsynaptic density from mouse hippocampus using data-independent acquisition proteomics
Distler, Ute, Schmeisser, Michael J., Pelosi, Assunta, Reim, Dominik, Kuharev, Jörg, Weiczner, Roland, Baumgart, Jan, Boeckers, Tobias M., Nitsch, Robert, Vogt, Johannes, Tenzer, Stefan
Published in Proteomics (Weinheim) (01.11.2014)
Published in Proteomics (Weinheim) (01.11.2014)
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Journal Article
Corticotropin-releasing hormone (CRH) alters mitochondrial morphology and function by activating the NF-kB-DRP1 axis in hippocampal neurons
Battaglia, Chiara R., Cursano, Silvia, Calzia, Enrico, Catanese, Alberto, Boeckers, Tobias M.
Published in Cell death & disease (23.11.2020)
Published in Cell death & disease (23.11.2020)
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Journal Article
Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling
Pagano, Jessica, Landi, Silvia, Stefanoni, Alessia, Nardi, Gabriele, Albanesi, Marica, Bauer, Helen F., Pracucci, Enrico, Schön, Michael, Ratto, Gian Michele, Boeckers, Tobias M., Sala, Carlo, Verpelli, Chiara
Published in Molecular autism (01.08.2023)
Published in Molecular autism (01.08.2023)
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Journal Article
Early Correction of N-Methyl-D-Aspartate Receptor Function Improves Autistic-like Social Behaviors in Adult Shank2−/− Mice
Chung, Changuk, Ha, Seungmin, Kang, Hyojin, Lee, Jiseok, Um, Seung Min, Yan, Haidun, Yoo, Ye-Eun, Yoo, Taesun, Jung, Hwajin, Lee, Dongwon, Lee, Eunee, Lee, Seungjoon, Kim, Jihye, Kim, Ryunhee, Kwon, Yonghan, Kim, Woohyun, Kim, Hyosang, Duffney, Lara, Kim, Doyoun, Mah, Won, Won, Hyejung, Mo, Seojung, Kim, Jin Yong, Lim, Chae-Seok, Kaang, Bong-Kiun, Boeckers, Tobias M., Chung, Yeonseung, Kim, Hyun, Jiang, Yong-hui, Kim, Eunjoon
Published in Biological psychiatry (1969) (01.04.2019)
Published in Biological psychiatry (1969) (01.04.2019)
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Journal Article
Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals
Halbedl, Sonja, Schoen, Michael, Feiler, Marisa S, Boeckers, Tobias M, Schmeisser, Michael J
Published in Journal of neurochemistry (01.04.2016)
Published in Journal of neurochemistry (01.04.2016)
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Journal Article