Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon

Autor: Musante L, Kunde SA, Sulistio TO, Fischer U, Grimme A, Frints SG, Schwartz CE, Martínez F, Romano C, Ropers HH, Kalscheuer VM

Publikováno v: HUMAN MUTATION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
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The polyglutamine binding protein 1 (PQBP1) gene plays an important role in X-linked mental retardation (XLMR). Nine of the thirteen PQBP1 mutations known to date affect the AG hexamer in exon 4 and cause frameshifts introducing premature termination

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::609faf2c0dc75e5d65e5efa61a7475dd
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=3976

JNK activity modulates postsynaptic scaffold protein SAP102 and kainate receptor dynamics in dendritic spines.

Autor: Kunde SA; Neuroscience Research Center NWFZ, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Schmerl B; Neuroscience Research Center NWFZ, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., von Sivers J; Neuroscience Research Center NWFZ, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Ahmadyar E; Neuroscience Research Center NWFZ, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Gupta T; Neuroscience Research Center NWFZ, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Rademacher N; Neuroscience Research Center NWFZ, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; German Center for Neurodegenerative Diseases (DZNE) Berlin, Berlin, Germany., Zieger HL; Neuroscience Research Center NWFZ, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany; CNRS, Interdisciplinary Institute for Neuroscience (IINS), UMR 5297, University of Bordeaux, Bordeaux, France., Shoichet SA; Neuroscience Research Center NWFZ, Charité - Universitätsmedizin Berlin, Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. Electronic address: sarah.shoichet@charite.de.

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2024 May; Vol. 300 (5), pp. 107263. Date of Electronic Publication: 2024 Apr 04.

Disease-associated synaptic scaffold protein CNK2 modulates PSD size and influences localisation of the regulatory kinase TNIK.

Autor: Zieger HL; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Interdisciplinary Institute for Neuroscience, CNRS, University of Bordeaux, UMR 5297, F-33000, Bordeaux, France., Kunde SA; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany., Rademacher N; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.; German Center for Neurodegenerative Diseases, 10117, Berlin, Germany., Schmerl B; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany., Shoichet SA; Neuroscience Research Center, Charité-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany. sarah.shoichet@charite.de.

Publikováno v: Scientific reports [Sci Rep] 2020 Mar 31; Vol. 10 (1), pp. 5709. Date of Electronic Publication: 2020 Mar 31.

Protein kinase C regulates AMPA receptor auxiliary protein Shisa9/CKAMP44 through interactions with neuronal scaffold PICK1.

Autor: Kunde SA; Neuroscience Research Center/Institute of Biochemistry Charité - Universitätsmedizin Berlin Germany., Rademacher N; Neuroscience Research Center/Institute of Biochemistry Charité - Universitätsmedizin Berlin Germany., Zieger H; Neuroscience Research Center/Institute of Biochemistry Charité - Universitätsmedizin Berlin Germany., Shoichet SA; Neuroscience Research Center/Institute of Biochemistry Charité - Universitätsmedizin Berlin Germany.

Publikováno v: FEBS open bio [FEBS Open Bio] 2017 Aug 15; Vol. 7 (9), pp. 1234-1245. Date of Electronic Publication: 2017 Aug 15 (Print Publication: 2017).

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.

Autor: Kunde SA; Neuroscience Research Center, Charité CrossOver, Charité-Universitaetsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10117 Berlin, Germany., Rademacher N, Tzschach A, Wiedersberg E, Ullmann R, Kalscheuer VM, Shoichet SA

Publikováno v: Human genetics [Hum Genet] 2013 Apr; Vol. 132 (4), pp. 461-71. Date of Electronic Publication: 2013 Jan 18.