Search Results - "DEMESTRE, MARIA"

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis by 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

“…Neuromuscular junction (NMJ) disruption is an early pathogenic event in amyotrophic lateral sclerosis (ALS). Yet, direct links between NMJ pathways and…”
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Deletion of the Autism-Associated Protein SHANK3 Abolishes Structural Synaptic Plasticity after Brain Trauma by Urrutia-Ruiz, Carolina, Rombach, Daniel, Cursano, Silvia, Gerlach-Arbeiter, Susanne, Schoen, Michael, Bockmann, Juergen, Demestre, Maria, Boeckers, Tobias M

“…Autism spectrum disorders (ASDs) are characterized by repetitive behaviors and impairments of sociability and communication. About 1% of ASD cases are caused…”
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Retinoic acid worsens ATG10-dependent autophagy impairment in TBK1-mutant hiPSC-derived motoneurons through SQSTM1/p62 accumulation by 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.

“…Mutations in the TBK1 (TANK binding kinase 1) gene are causally linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TBK1…”
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4‐Aminopyridine Induced Activity Rescues Hypoexcitable Motor Neurons from Amyotrophic Lateral Sclerosis Patient‐Derived Induced Pluripotent Stem Cells by 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

“…Despite decades of research on amyotrophic lateral sclerosis (ALS), there is only one approved drug, which minimally extends patient survival. Here, we…”
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Stepwise acquirement of hallmark neuropathology in FUS-ALS iPSC models depends on mutation type and neuronal aging by Japtok, Julia, Lojewski, Xenia, Naumann, Marcel, Klingenstein, Moritz, Reinhardt, Peter, Sterneckert, Jared, Putz, Stefan, Demestre, Maria, Boeckers, Tobias M, Ludolph, Albert C, Liebau, Stefan, Storch, Alexander, Hermann, Andreas

“…Abstract Autosomal-dominant mutations within the gene FUS (fused in sarcoma) are responsible for 5% of familial cases of amyotrophic lateral sclerosis (ALS)…”
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Synaptic FUS Localization During Motoneuron Development and Its Accumulation in Human ALS Synapses by Deshpande, Dhruva, Higelin, Julia, Schoen, Michael, Vomhof, Thomas, Boeckers, Tobias M, Demestre, Maria, Michaelis, Jens

“…Mutations in the fused in Sarcoma ( ) gene induce cytoplasmic FUS aggregations, contributing to the neurodegenerative disease amyotrophic lateral sclerosis…”
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NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons by Higelin, Julia, Catanese, Alberto, Semelink-Sedlacek, Lena Luisa, Oeztuerk, Sertap, Lutz, Anne-Kathrin, Bausinger, Julia, Barbi, Gotthold, Speit, Günter, Andersen, Peter M., Ludolph, Albert C., Demestre, Maria, Boeckers, Tobias M.

“…Mutations in genes coding for proteins involved in DNA damage response (DDR) and repair, such as C9orf72 and FUS (Fused in Sarcoma), are associated with…”
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SHANK2 Mutations Result in Dysregulation of the ERK1/2 Pathway in Human Induced Pluripotent Stem Cells-Derived Neurons and Shank2 (-/-) Mice by Lutz, Anne-Kathrin, Pérez Arévalo, Andrea, Ioannidis, Valentin, Stirmlinger, Nadine, Demestre, Maria, Delorme, Richard, Bourgeron, Thomas, Boeckers, Tobias M

“…SHANK2 (ProSAP1) is a postsynaptic scaffolding protein of excitatory synapses in the central nervous system and implicated in the development of autism…”
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ALS-causing mutations differentially affect PGC-1α expression and function in the brain vs. peripheral tissues by Bayer, Hanna, Lang, Kerstin, Buck, Eva, Higelin, Julia, Barteczko, Lara, Pasquarelli, Noemi, Sprissler, Jasmin, Lucas, Tanja, Holzmann, Karlheinz, Demestre, Maria, Lindenberg, Katrin S, Danzer, Karin M, Boeckers, Tobias, Ludolph, Albert C, Dupuis, Luc, Weydt, Patrick, Witting, Anke

“…Abstract Background Monogenetic forms of amyotrophic lateral sclerosis (ALS) offer an opportunity for unraveling the molecular mechanisms underlying this…”
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FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons by Higelin, Julia, Demestre, Maria, Putz, Stefan, Delling, Jan P, Jacob, Christian, Lutz, Anne-Kathrin, Bausinger, Julia, Huber, Anne-Kathrin, Klingenstein, Moritz, Barbi, Gotthold, Speit, Günter, Huebers, Annemarie, Weishaupt, Jochen H, Hermann, Andreas, Liebau, Stefan, Ludolph, Albert C, Boeckers, Tobias M

“…Mutations within the gene (Fused in Sarcoma) are known to cause Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease affecting upper and lower…”
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The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian Syndromes by Stockmann, Marianne, Meyer-Ohlendorf, Marie, Achberger, Kevin, Putz, Stefan, Demestre, Maria, Yin, Haishan, Hendrich, Corinna, Linta, Leonhard, Heinrich, Jutta, Brunner, Cornelia, Proepper, Christian, Kuh, Georges F., Baumann, Bernd, Langer, Torben, Schwalenstöcker, Birgit, Braunstein, Kerstin E., von Arnim, Christine, Schneuwly, Stephan, Meyer, Thomas, Wong, Philip C., Boeckers, Tobias M., Ludolph, Albert C., Liebau, Stefan

“…The dynactin p150glued subunit, encoded by the gene DCTN1 is part of the dynein–dynactin motor protein complex responsible for retrograde axonal transport…”
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Cancer stem cell-like cells derived from malignant peripheral nerve sheath tumors by Spyra, Melanie, Kluwe, Lan, Hagel, Christian, Nguyen, Rosa, Panse, Jens, Kurtz, Andreas, Mautner, Victor Felix, Rabkin, Samuel David, Demestre, Maria

“…This study aims to examine whether or not cancer stem cells exist in malignant peripheral nerve sheath tumors (MPNST). Cells of established lines, primary…”
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Observations on the function of nuclear factor kappa B (NF-κB) in the survival of adult primary sensory neurons after nerve injury by Gushchina, Svetlana, Leinster, Veronica, Wu, Dongsheng, Jasim, Avin, Demestre, Maria, Lopez de Heredia, Luis, Michael, Gregory J., Barker, Philip A., Richardson, Peter M., Magoulas, Charalambos

“…Peripheral nerve transections cause much more neuronal death in embryonic and neonatal dorsal root ganglia (DRG) than in adult DRG. Here we used transgenic…”
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Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles by Lutz, Anne-Kathrin, Pfaender, Stefanie, Incearap, Berra, Ioannidis, Valentin, Ottonelli, Ilaria, Föhr, Karl J, Cammerer, Judith, Zoller, Marvin, Higelin, Julia, Giona, Federica, Stetter, Maximilian, Stoecker, Nicole, Alami, Najwa Ouali, Schön, Michael, Orth, Michael, Liebau, Stefan, Barbi, Gotthold, Grabrucker, Andreas M, Delorme, Richard, Fauler, Michael, Mayer, Benjamin, Jesse, Sarah, Roselli, Francesco, Ludolph, Albert C, Bourgeron, Thomas, Verpelli, Chiara, Demestre, Maria, Boeckers, Tobias M

“…Heterozygous mutations of the gene encoding the postsynaptic protein SHANK3 are associated with syndromic forms of autism spectrum disorders (ASDs). One of the…”
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A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis by Freischmidt, Axel, Goswami, Anand, Limm, Katharina, Zimyanin, Vitaly L, Demestre, Maria, Glaß, Hannes, Holzmann, Karlheinz, Helferich, Anika M, Brockmann, Sarah J, Tripathi, Priyanka, Yamoah, Alfred, Poser, Ina, Oefner, Peter J, Böckers, Tobias M, Aronica, Eleonora, Ludolph, Albert C, Andersen, Peter M, Hermann, Andreas, Weis, Joachim, Reinders, Jörg, Danzer, Karin M, Weishaupt, Jochen H

“…Knowledge about converging disease mechanisms in the heterogeneous syndrome amyotrophic lateral sclerosis (ALS) is rare, but may lead to therapies effective in…”
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Super-Resolution Microscopy Reveals Presynaptic Localization of the ALS/FTD Related Protein FUS in Hippocampal Neurons by Schoen, Michael, Reichel, Jochen M, Demestre, Maria, Putz, Stefan, Deshpande, Dhruva, Proepper, Christian, Liebau, Stefan, Schmeisser, Michael J, Ludolph, Albert C, Michaelis, Jens, Boeckers, Tobias M

“…Fused in Sarcoma (FUS) is a multifunctional RNA-/DNA-binding protein, which is involved in the pathogenesis of the neurodegenerative disorders amyotrophic…”
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Intranasal Delivery of Neural Stem/Progenitor Cells: A Noninvasive Passage to Target Intracerebral Glioma by Reitz, Matthias, Demestre, Maria, Sedlacik, Jan, Meissner, Hildegard, Fiehler, Jens, Kim, Seung U., Westphal, Manfred, Schmidt, Nils Ole

“…This study investigates the feasibility of intranasal administration of neural stem/progenitor cells (NSPCs) as an alternative, noninvasive, and direct passage…”
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Effect of a Matrix Metalloproteinase Inhibitor (BB-1101) on Nerve Regeneration by DEMESTRE, MARIA, GREGSON, N. A., SMITH, K. J., MILLER, K. M., GEARING, A. J., HUGHES, R.A. C.

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Effects of pigment epithelium derived factor (PEDF) on malignant peripheral nerve sheath tumours (MPNSTs) by Demestre, Maria, Terzi, Menderes Yusuf, Mautner, Victor, Vajkoczy, Peter, Kurtz, Andreas, Piña, Ana Luisa

“…Neurofibromatosis type 1 (NF1) is an inherited genetic disease affecting 1 in 3,500 individuals. A prominent feature of NF1 is the formation of benign tumours…”
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ALS-causing mutations differentially affect PGC-1α expression and function in the brain vs. peripheral tissues by Bayer, Hanna, Lang, Kerstin, Buck, Eva, Higelin, Julia, Barteczko, Lara, Pasquarelli, Noemi, Sprissler, Jasmin, Lucas, Tanja, Holzmann, Karlheinz, Demestre, Maria, Lindenberg, Katrin, Danzer, Karin, Boeckers, Tobias, Ludolph, Albert, Dupuis, Luc, Weydt, Patrick, Witting, Anke

“…Background: Monogenetic forms of amyotrophic lateral sclerosis (ALS) offer an opportunity for unraveling the molecular mechanisms underlying this devastating…”
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