Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Jan Philipp Delling"'
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract CACNA1C, coding for the α1 subunit of L-type voltage-gated calcium channel (LTCC) Cav1.2, has been associated with multiple psychiatric disorders. Clinical studies have revealed alterations in behavior as well as in brain structure and func
Externí odkaz:
https://doaj.org/article/46564bab22674af7a54193c90005d65f
Autor:
Helen Friedericke Bauer, Jan Philipp Delling, Jürgen Bockmann, Tobias M. Boeckers, Michael Schön
Publikováno v:
Frontiers in Behavioral Neuroscience, Vol 16 (2023)
Individuals with a SHANK3-related neurodevelopmental disorder, also termed Phelan-McDermid syndrome or abbreviated as PMS, exhibit significant global developmental delay, language impairment, and muscular hypotonia. Also common are repetitive behavio
Externí odkaz:
https://doaj.org/article/8a57b9e4971e4c57adacba32f68be7ee
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-37 (2021)
Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include deficits in social communication and interaction, as well as re
Externí odkaz:
https://doaj.org/article/ae6654901b7240b0acc5734c1d080d86
Autor:
Sarah Jesse, Jan Philipp Delling, Michael Schön, Tobias M Boeckers, Albert Ludolph, Makbule Senel
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2311 (2021)
Phelan McDermid syndrome (PMcD) is a neurogenetic disease associated with haploinsufficiency of the SHANK3 gene due to a spectrum of anomalies in the terminal region of the long arm of chromosome 22. SHANK3 is the abbreviation for SH3 domain and anky
Externí odkaz:
https://doaj.org/article/2dda12067e3a4040a4e6600addb628f5
Publikováno v:
Nucleic acid therapeutics.
SHANK3 is a member of the SHANK family of scaffolding proteins that localize to the postsynaptic density of excitatory synapses. Mutations within the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c2ce4fb4b30839e291062fb58541b0da
https://pubmed.ncbi.nlm.nih.gov/36355061
https://pubmed.ncbi.nlm.nih.gov/36355061
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-37 (2021)
Journal of neurodevelopmental disorders 13(1), 55 (2021). doi:10.1186/s11689-021-09397-8
Journal of Neurodevelopmental Disorders
Journal of neurodevelopmental disorders 13(1), 55 (2021). doi:10.1186/s11689-021-09397-8
Journal of Neurodevelopmental Disorders
Background Autism spectrum disorder (ASD) is a neurodevelopmental condition, which is characterized by clinical heterogeneity and high heritability. Core symptoms of ASD include deficits in social communication and interaction, as well as restricted,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05184cd786f23ae303ddaaf21b5f54d5
https://doi.org/10.1186/s11689-021-09397-8
https://doi.org/10.1186/s11689-021-09397-8
Autor:
Michael Schön, Clemens Lindenau, Anja Böckers, Claire-Marie Altrock, David A. C. Messerer, Lydia Krys, Anastasia Nosanova, Nicole Lang, Andrea Renz, Joris Kroschel, Alexandra Beil, Elke Pensel, Claudia Grab, Benjamin Mayer, Ulrich Fassnacht, Jan Philipp Delling, Magdalena Engelmann, Astrid Horneffer, Maria Zernickel, Klaus-Michael Debatin, Jan Münch, Frank Kirchhoff, Thomas Wirth, Tobias M. Boeckers
The practical course in macroscopic (gross) anatomy is an essential component of medical studies. The dynamic situation with high SARS-CoV-2 infection rates prior to the winter semester (02.11.2020 until 01.03.2021) confronted university institutions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc70035063651b8a5a73626eb589dff2
https://doi.org/10.1101/2021.05.04.21256382
https://doi.org/10.1101/2021.05.04.21256382
Autor:
Moritz Klingenstein, Gotthold Barbi, Anne-Kathrin Huber, Anne-Kathrin Lutz, Albert C. Ludolph, Stefan Putz, Andreas Hermann, Annemarie Huebers, Christian Jacob, Maria Demestre, Julia Bausinger, Tobias M. Boeckers, Günter Speit, Jan Philipp Delling, Julia Higelin, Jochen H. Weishaupt, Stefan Liebau
Publikováno v:
Frontiers in cellular neuroscience 10, 159 (2016). doi:10.3389/fncel.2016.00290
Frontiers in Cellular Neuroscience
Frontiers in Cellular Neuroscience
Mutations within the FUS gene (Fused in Sarcoma) are known to cause Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease affecting upper and lower motoneurons. The FUS gene codes for a multifunctional RNA/DNA-binding protein that is prima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7379cbbb27a4ad97f92f4724512a883
Autor:
Mariagiovanna Malara, Anne-Kathrin Lutz, Berra Incearap, Helen Friedericke Bauer, Silvia Cursano, Katrin Volbracht, Joanna Janina Lerner, Rakshita Pandey, Jan Philipp Delling, Valentin Ioannidis, Andrea Pérez Arévalo, Jaime Eugenin von Bernhardi, Michael Schön, Jürgen Bockmann, Leda Dimou, Tobias M. Boeckers
Publikováno v:
Cellular and molecular life sciences 79(7), 371 (2022). doi:10.1007/s00018-022-04400-4
Mutations or deletions of the SHANK3 gene are causative for Phelan–McDermid syndrome (PMDS), a syndromic form of autism spectrum disorders (ASDs). We analyzed Shank3Δ11(−/−) mice and organoids from PMDS individuals to study effects on myelin.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41b56ee830d7ba63e564f78a8fbf9d41