Search Results - "Annette Schenck"

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study by Rauch, Anita, Prof, Wieczorek, Dagmar, MD, Graf, Elisabeth, MSc, Wieland, Thomas, MSc, Endele, Sabine, PhD, Schwarzmayr, Thomas, MSc, Albrecht, Beate, MD, Bartholdi, Deborah, MD, Beygo, Jasmin, MSc, Di Donato, Nataliya, MD, Dufke, Andreas, MD, Cremer, Kirsten, MD, Hempel, Maja, MD, Horn, Denise, MD, Hoyer, Juliane, MD, Joset, Pascal, PhD, Röpke, Albrecht, PhD, Moog, Ute, MD, Riess, Angelika, MD, Thiel, Christian T, MD, Tzschach, Andreas, MD, Wiesener, Antje, MD, Wohlleber, Eva, MD, Zweier, Christiane, MD, Ekici, Arif B, PhD, Zink, Alexander M, MSc, Rump, Andreas, PhD, Meisinger, Christa, MD, Grallert, Harald, PhD, Sticht, Heinrich, PhD, Schenck, Annette, PhD, Engels, Hartmut, PhD, Rappold, Gudrun, Prof, Schröck, Evelin, Prof, Wieacker, Peter, Prof, Riess, Olaf, Prof, Meitinger, Thomas, Prof, Reis, André, Prof, Strom, Tim M, Dr

“…Summary Background The genetic cause of intellectual disability in most patients is unclear because of the absence of morphological clues, information about…”
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Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila by Coll-Tané, Mireia, Krebbers, Alina, Castells-Nobau, Anna, Zweier, Christiane, Schenck, Annette

“…Intellectual disability (ID) and autism spectrum disorders (ASD) are frequently co-occurring neurodevelopmental disorders and affect 2-3% of the population…”
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Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila by Fenckova, Michaela, Muha, Villo, Mariappa, Daniel, Catinozzi, Marica, Czajewski, Ignacy, Blok, Laura E R, Ferenbach, Andrew T, Storkebaum, Erik, Schenck, Annette, van Aalten, Daan M F

“…O-GlcNAcylation is a reversible co-/post-translational modification involved in a multitude of cellular processes. The addition and removal of the O-GlcNAc…”
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Restoring polyamines protects from age-induced memory impairment in an autophagy-dependent manner by Gupta, Varun K, Scheunemann, Lisa, Eisenberg, Tobias, Mertel, Sara, Bhukel, Anuradha, Koemans, Tom S, Kramer, Jamie M, Liu, Karen S Y, Schroeder, Sabrina, Stunnenberg, Hendrik G, Sinner, Frank, Magnes, Christoph, Pieber, Thomas R, Dipt, Shubham, Fiala, André, Schenck, Annette, Schwaerzel, Martin, Madeo, Frank, Sigrist, Stephan J

“…Polyamines such as spermidine and putrescine are known to promote autophagy and longevity in fruit flies. Similar to many other organisms, Drosophila also…”
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The Endosomal Protein Appl1 Mediates Akt Substrate Specificity and Cell Survival in Vertebrate Development by Schenck, Annette, Goto-Silva, Livia, Collinet, Claudio, Rhinn, Muriel, Giner, Angelika, Habermann, Bianca, Brand, Michael, Zerial, Marino

“…During development of multicellular organisms, cells respond to extracellular cues through nonlinear signal transduction cascades whose principal components…”
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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder by Koemans, Tom S, Kleefstra, Tjitske, Chubak, Melissa C, Stone, Max H, Reijnders, Margot R F, de Munnik, Sonja, Willemsen, Marjolein H, Fenckova, Michaela, Stumpel, Connie T R M, Bok, Levinus A, Sifuentes Saenz, Margarita, Byerly, Kyna A, Baughn, Linda B, Stegmann, Alexander P A, Pfundt, Rolph, Zhou, Huiqing, van Bokhoven, Hans, Schenck, Annette, Kramer, Jamie M

“…Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism…”
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The epigenetic regulator G9a mediates tolerance to RNA virus infection in Drosophila by Merkling, Sarah H, Bronkhorst, Alfred W, Kramer, Jamie M, Overheul, Gijs J, Schenck, Annette, Van Rij, Ronald P

“…Little is known about the tolerance mechanisms that reduce the negative effects of microbial infection on host fitness. Here, we demonstrate that the histone…”
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CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila by Zweier, Christiane, de Jong, Eiko K., Zweier, Markus, Orrico, Alfredo, Ousager, Lilian B., Collins, Amanda L., Bijlsma, Emilia K., Oortveld, Merel A.W., Ekici, Arif B., Reis, André, Schenck, Annette, Rauch, Anita

“…Heterozygous copy-number variants and SNPs of CNTNAP2 and NRXN1, two distantly related members of the neurexin superfamily, have been repeatedly associated…”
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The epigenetic regulator G9a attenuates stress-induced resistance and metabolic transcriptional programs across different stressors and species by Riahi, Human, Fenckova, Michaela, Goruk, Kayla J, Schenck, Annette, Kramer, Jamie M

“…Resistance and tolerance are two coexisting defense strategies for fighting infections. Resistance is mediated by signaling pathways that induce…”
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Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability by Kleefstra, Tjitske, Kramer, Jamie M., Neveling, Kornelia, Willemsen, Marjolein H., Koemans, Tom S., Vissers, Lisenka E.L.M., Wissink-Lindhout, Willemijn, Fenckova, Michaela, van den Akker, Willem M.R., Kasri, Nael Nadif, Nillesen, Willy M., Prescott, Trine, Clark, Robin D., Devriendt, Koenraad, van Reeuwijk, Jeroen, de Brouwer, Arjan P.M., Gilissen, Christian, Zhou, Huiqing, Brunner, Han G., Veltman, Joris A., Schenck, Annette, van Bokhoven, Hans

“…Intellectual disability (ID) disorders are genetically and phenotypically highly heterogeneous and present a major challenge in clinical genetics and medicine…”
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Contribution of Intellectual Disability–Related Genes to ADHD Risk and to Locomotor Activity in Drosophila by Klein, Marieke, Singgih, Euginia L, van Rens, Anne, Demontis, Ditte, Børglum, Anders D, Mota, Nina Roth, Castells-Nobau, Anna, Kiemeney, Lambertus A, Brunner, Han G, Arias-Vasquez, Alejandro, Schenck, Annette, van der Voet, Monique, Franke, Barbara

“…Objective:Attention deficit hyperactivity disorder (ADHD) is a common, highly heritable neuropsychiatric disorder. ADHD often co-occurs with intellectual…”
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome by Koolen, David A, Kramer, Jamie M, Neveling, Kornelia, Nillesen, Willy M, Moore-Barton, Heather L, Elmslie, Frances V, Toutain, Annick, Amiel, Jeanne, Malan, Valérie, Tsai, Anne Chun-Hui, Cheung, Sau Wai, Gilissen, Christian, Verwiel, Eugene T P, Martens, Sarah, Feuth, Ton, Bongers, Ernie M H F, de Vries, Petra, Scheffer, Hans, Vissers, Lisenka E L M, de Brouwer, Arjan P M, Brunner, Han G, Veltman, Joris A, Schenck, Annette, Yntema, Helger G, de Vries, Bert B A

“…Bert DeVries and colleagues identify mutations in the chromatin regulator KANSL1 in 17q21.31 microdeletion syndrome. This syndrome is characterized by…”
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The histone methyltransferase G9a regulates tolerance to oxidative stress-induced energy consumption by Riahi, Human, Brekelmans, Carlijn, Foriel, Sarah, Merkling, Sarah H, Lyons, Taylor A, Itskov, Pavel M, Kleefstra, Tjitske, Ribeiro, Carlos, van Rij, Ronald P, Kramer, Jamie M, Schenck, Annette

“…Stress responses are crucial processes that require activation of genetic programs that protect from the stressor. Stress responses are also energy consuming…”
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Epigenetic regulation of learning and memory by Drosophila EHMT/G9a by Kramer, Jamie M, Kochinke, Korinna, Oortveld, Merel A W, Marks, Hendrik, Kramer, Daniela, de Jong, Eiko K, Asztalos, Zoltan, Westwood, J Timothy, Stunnenberg, Hendrik G, Sokolowski, Marla B, Keleman, Krystyna, Zhou, Huiqing, van Bokhoven, Hans, Schenck, Annette

“…The epigenetic modification of chromatin structure and its effect on complex neuronal processes like learning and memory is an emerging field in neuroscience…”
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Ataxia-associated DNA repair genes protect the Drosophila mushroom body and locomotor function against glutamate signaling-associated damage by Eidhof, Ilse, Krebbers, Alina, van de Warrenburg, Bart, Schenck, Annette

“…The precise control of motor movements is of fundamental importance to all behaviors in the animal kingdom. Efficient motor behavior depends on dedicated…”
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Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila by Castells-Nobau, Anna, Eidhof, Ilse, Fenckova, Michaela, Brenman-Suttner, Dova B, Scheffer-de Gooyert, Jolanda M, Christine, Sheren, Schellevis, Rosa L, van der Laan, Kiran, Quentin, Christine, van Ninhuijs, Lisa, Hofmann, Falko, Ejsmont, Radoslaw, Fisher, Simon E, Kramer, Jamie M, Sigrist, Stephan J, Simon, Anne F, Schenck, Annette

“…FOXP proteins form a subfamily of evolutionarily conserved transcription factors involved in the development and functioning of several tissues, including the…”
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GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia by Eidhof, Ilse, Baets, Jonathan, Kamsteeg, Erik-Jan, Deconinck, Tine, van Ninhuijs, Lisa, Martin, Jean-Jacques, Schüle, Rebecca, Züchner, Stephan, De Jonghe, Peter, Schenck, Annette, van de Warrenburg, Bart P

“…Eidhof et al. report a new subtype of autosomal recessive cerebellar ataxia caused by mutations in GDAP2, and show that Gdap2 knockdown in Drosophila…”
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Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration by Dubos, Aline, Castells-Nobau, Anna, Meziane, Hamid, Oortveld, Merel A W, Houbaert, Xander, Iacono, Giovanni, Martin, Christelle, Mittelhaeuser, Christophe, Lalanne, Valérie, Kramer, Jamie M, Bhukel, Anuradha, Quentin, Christine, Slabbert, Jan, Verstreken, Patrik, Sigrist, Stefan J, Messaddeq, Nadia, Birling, Marie-Christine, Selloum, Mohammed, Stunnenberg, Henk G, Humeau, Yann, Schenck, Annette, Herault, Yann

“…ATP6AP2, an essential accessory component of the vacuolar H+ ATPase (V-ATPase), has been associated with intellectual disability (ID) and Parkinsonism. ATP6AP2…”
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Drosophila Courtship Conditioning As a Measure of Learning and Memory by Koemans, Tom S, Oppitz, Cornelia, Donders, Rogier A T, van Bokhoven, Hans, Schenck, Annette, Keleman, Krystyna, Kramer, Jamie M

“…Many insights into the molecular mechanisms underlying learning and memory have been elucidated through the use of simple behavioral assays in model organisms…”
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Analysis of adhesion molecules and basement membrane contributions to synaptic adhesion at the Drosophila embryonic NMJ by Koper, Andre, Schenck, Annette, Prokop, Andreas

“…Synapse formation and maintenance crucially underlie brain function in health and disease. Both processes are believed to depend on cell adhesion molecules…”
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