Zobrazeno 1 - 5
of 5
pro vyhledávání: '"SHANK3 protein, human"'
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:
Sarah Jesse, Jan Philipp Delling, Michael Schön, Tobias M Boeckers, Albert Ludolph, Makbule Senel
Publikováno v:
International Journal of Molecular Sciences
International journal of molecular sciences 22(5), 2311-(2021). doi:10.3390/ijms22052311
International Journal of Molecular Sciences, Vol 22, Iss 2311, p 2311 (2021)
International journal of molecular sciences 22(5), 2311-(2021). doi:10.3390/ijms22052311
International Journal of Molecular Sciences, Vol 22, Iss 2311, 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://explore.openaire.eu/search/publication?articleId=pmid_dedup__::fa28aed9b4bc7c3c433de629e7ebee62
http://europepmc.org/articles/PMC7956287
http://europepmc.org/articles/PMC7956287
Autor:
Mariaelvina Sala, Cinzia Costa, Paolo Calabresi, Miriam Sciaccaluga, Chiara Verpelli, Carlo Sala, Jessica Pagano, Alessandro Tozzi, Elena Vezzoli, Stefania Beretta, Maura Francolini, Luisa Ponzoni, Tobias M. Boeckers, Adele Mossa
Publikováno v:
Molecular psychiatry 26(6), 1928-1944 (2021). doi:10.1038/s41380-020-00979-x
Mol Psychiatry
Mol Psychiatry
Human mutations and haploinsufficiency of the SHANK family genes are associated with autism spectrum disorders (ASD) and intellectual disability (ID). Complex phenotypes have been also described in all mouse models of Shank mutations and deletions, c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ab1c712b201e195ea05a9c7f147ab1
http://hdl.handle.net/11391/1481162
http://hdl.handle.net/11391/1481162
Autor:
Tobias M. Boeckers, Chiara Verpelli, Marie Germaine Mameza, Margarete Bamann, Elena Dvoretskova, Igor L. Barsukov, Alexander Dityatev, Hans-Jürgen Kreienkamp, Michael Schoen, Carlo Sala, Türkan Güler, Hans-Hinrich Hönck
Publikováno v:
The journal of biological chemistry 288(37), 26697-26708 (2013). doi:10.1074/jbc.M112.424747
Shank/ProSAP proteins are major scaffold proteins of the postsynaptic density; mutations in the human SHANK3 gene are associated with intellectual disability or autism spectrum disorders. We have analyzed the functional relevance of several SHANK3 mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5855ba258626c5ce6305b9ea7a841cea
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