Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Maria Demestre"'
Autor:
Anne-Kathrin Lutz, Andrea Pérez Arévalo, Valentin Ioannidis, Nadine Stirmlinger, Maria Demestre, Richard Delorme, Thomas Bourgeron, Tobias M. Boeckers
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
SHANK2 (ProSAP1) is a postsynaptic scaffolding protein of excitatory synapses in the central nervous system and implicated in the development of autism spectrum disorders (ASD). Patients with mutations in SHANK2 show autism-like behaviors, developmen
Externí odkaz:
https://doaj.org/article/62de73e79ade401bb205c8be84ad16a1
Autor:
Carolina Urrutia-Ruiz, Daniel Rombach, Silvia Cursano, Susanne Gerlach-Arbeiter, Michael Schoen, Juergen Bockmann, Maria Demestre, Tobias M. Boeckers
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 11, p 6081 (2022)
Autism spectrum disorders (ASDs) are characterized by repetitive behaviors and impairments of sociability and communication. About 1% of ASD cases are caused by mutations of SHANK3, a major scaffolding protein of the postsynaptic density. We studied
Externí odkaz:
https://doaj.org/article/956c0cd65eb54b108ced521da9ddaf76
Autor:
Julia Higelin, Alberto Catanese, Lena Luisa Semelink-Sedlacek, Sertap Oeztuerk, Anne-Kathrin Lutz, Julia Bausinger, Gotthold Barbi, Günter Speit, Peter M. Andersen, Albert C. Ludolph, Maria Demestre, Tobias M. Boeckers
Publikováno v:
Stem Cell Research, Vol 30, Iss , Pp 150-162 (2018)
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 neurodegenerative diseases and lead to amyotrophic lateral sclerosis (ALS). Heterozygous loss-of-
Externí odkaz:
https://doaj.org/article/be463ac0cbd04cb1b509b67287550dc4
Autor:
Hanna Bayer, Kerstin Lang, Eva Buck, Julia Higelin, Lara Barteczko, Noemi Pasquarelli, Jasmin Sprissler, Tanja Lucas, Karlheinz Holzmann, Maria Demestre, Katrin S. Lindenberg, Karin M. Danzer, Tobias Boeckers, Albert C. Ludolph, Luc Dupuis, Patrick Weydt, Anke Witting
Publikováno v:
Neurobiology of Disease, Vol 97, Iss , Pp 36-45 (2017)
Background: Monogenetic forms of amyotrophic lateral sclerosis (ALS) offer an opportunity for unraveling the molecular mechanisms underlying this devastating neurodegenerative disorder. In order to identify a link between ALS-related metabolic change
Externí odkaz:
https://doaj.org/article/4688a059a6104c1f91a58f9015d36f2d
Autor:
Dhruva Deshpande, Julia Higelin, Michael Schoen, Thomas Vomhof, Tobias M. Boeckers, Maria Demestre, Jens Michaelis
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Mutations in the fused in Sarcoma (FUS) gene induce cytoplasmic FUS aggregations, contributing to the neurodegenerative disease amyotrophic lateral sclerosis (ALS) in certain cases. While FUS is mainly a nuclear protein involved in transcriptional pr
Externí odkaz:
https://doaj.org/article/fd25c1dffa5e4e0383d41d63d081d057
Autor:
Julia Japtok, Xenia Lojewski, Marcel Naumann, Moritz Klingenstein, Peter Reinhardt, Jared Sterneckert, Stefan Putz, Maria Demestre, Tobias M. Boeckers, Albert C. Ludolph, Stefan Liebau, Alexander Storch, Andreas Hermann
Publikováno v:
Neurobiology of Disease, Vol 82, Iss , Pp 420-429 (2015)
Autosomal-dominant mutations within the gene FUS (fused in sarcoma) are responsible for 5% of familial cases of amyotrophic lateral sclerosis (ALS). The FUS protein is physiologically mainly located in the nucleus, while cytoplasmic FUS aggregates ar
Externí odkaz:
https://doaj.org/article/090bf0e93a484e199fd95ab2595c4dea
Autor:
Melanie Spyra, Lan Kluwe, Christian Hagel, Rosa Nguyen, Jens Panse, Andreas Kurtz, Victor Felix Mautner, Samuel David Rabkin, Maria Demestre
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21099 (2011)
This study aims to examine whether or not cancer stem cells exist in malignant peripheral nerve sheath tumors (MPNST). Cells of established lines, primary cultures and freshly dissected tumors were cultured in serum free conditions supplemented with
Externí odkaz:
https://doaj.org/article/56228b24137f4c71855b377bafd5a182
Autor:
Anika M. Helferich, Peter M. Andersen, Priyanka Tripathi, Vitaly Zimyanin, Sarah J Brockmann, Axel Freischmidt, Albert C. Ludolph, Hannes Glaß, Joachim Weis, Eleonora Aronica, Andreas Hermann, Peter J. Oefner, Karin M Danzer, Maria Demestre, Karlheinz Holzmann, Alfred Yamoah, Anand Goswami, Tobias M. Böckers, Jörg Reinders, Jochen H. Weishaupt, Katharina Limm, Ina Poser
Publikováno v:
Brain
Brain 144(4), 1214-1229 (2021). doi:10.1093/brain/awab018
Brain, 144(4), 1214-1229. Oxford University Press
Brain 144(4), 1214-1229 (2021). doi:10.1093/brain/awab018
Brain, 144(4), 1214-1229. Oxford University Press
Knowledge about converging disease mechanisms in the heterogeneous syndrome amyotrophic lateral sclerosis (ALS) is rare, but may lead to therapies effective in most ALS cases. Previously, we identified serum microRNAs downregulated in familial ALS, t
Autor:
Chantal Sellier, Nick H.M. van Bakel, Amila Zuko, Céline Sijlmans, Sina Mersmann, Anne-Laurence Boutillier, Annemarie Hübers, Amr Aly, Marina Wagner, Stéphane Dieterlé, Moushami Mallik, Marc-Antoine Goy, Clotilde Lagier-Tourenne, Gina Picchiarelli, Albert C. Ludolph, Luc Dupuis, Erik Storkebaum, Julia Higelin, Angela Rosenbohm, Li Zhang, Tobias M. Boeckers, Marije Been, Maria Demestre, Jelena Scekic-Zahirovic, Nadia Messaddeq, Inmaculada Sanjuan-Ruiz
Publikováno v:
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2019, 22 (11), pp.1793-1805. ⟨10.1038/s41593-019-0498-9⟩
Nature neuroscience
Nature Neuroscience, 22, 1793-1805
Nature reviews / Neuroscience 22(11), 1793-1805 (2019). doi:10.1038/s41593-019-0498-9
Nature Neuroscience, 22, 11, pp. 1793-1805
Nature Neuroscience, Nature Publishing Group, 2019, 22 (11), pp.1793-1805. ⟨10.1038/s41593-019-0498-9⟩
Nature neuroscience
Nature Neuroscience, 22, 1793-1805
Nature reviews / Neuroscience 22(11), 1793-1805 (2019). doi:10.1038/s41593-019-0498-9
Nature Neuroscience, 22, 11, pp. 1793-1805
Neuromuscular junction (NMJ) disruption is an early pathogenic event in amyotrophic lateral sclerosis (ALS). Yet, direct links between NMJ pathways and ALS-associated genes such as FUS, whose heterozygous mutations cause aggressive forms of ALS, rema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a29ee2725324cd47aad72a1d21ded34f
https://hal.archives-ouvertes.fr/hal-02406369
https://hal.archives-ouvertes.fr/hal-02406369
Autor:
Axel Freischmidt, Albert C. Ludolph, Alberto Catanese, Tobias M. Boeckers, Jochen H. Weishaupt, Maria Demestre, Medhanie A. Mulaw, Julia Higelin, Gotthold Barbi, Francesco Roselli, Florian olde Heuvel
Publikováno v:
Autophagy. 15(10)
Mutations in the TBK1 (TANK binding kinase 1) gene are causally linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TBK1 phosphorylates the cargo receptors OPTN and SQSTM1 regulating a critical step in macroautophagy/auto