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Schob, C.* ; Morellini, F.* ; Ohana, O.* ; Bakota, L.* ; Hrynchak, M.V.* ; Brandt, R.* ; Brockmann, M.D.* ; Cichon, N.* ; Hartung, H.* ; Hanganu-Opatz, I.L.* ; Kraus, V.* ; Scharf, S.* ; Herrmans-Borgmeyer, I.* ; Schweizer, M.* ; Kuhl, D.* ; Wöhr, M.* ; Vörckel, K.J.* ; Calzada-Wack, J. ; Fuchs, H. ; Gailus-Durner, V. ; Hrabě de Angelis, M. ; Garner, C.C.* ; Kreienkamp, H.J.* ; Kindler, S.*

Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.

Transl. Psychiatry 9:7 (2019)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
In humans, genetic variants of DLGAP1-4 have been linked with neuropsychiatric conditions, including autism spectrum disorder (ASD). While these findings implicate the encoded postsynaptic proteins, SAPAP1-4, in the etiology of neuropsychiatric conditions, underlying neurobiological mechanisms are unknown. To assess the contribution of SAPAP4 to these disorders, we characterized SAPAP4-deficient mice. Our study reveals that the loss of SAPAP4 triggers profound behavioural abnormalities, including cognitive deficits combined with impaired vocal communication and social interaction, phenotypes reminiscent of ASD in humans. These behavioural alterations of SAPAP4-deficient mice are associated with dramatic changes in synapse morphology, function and plasticity, indicating that SAPAP4 is critical for the development of functional neuronal networks and that mutations in the corresponding human gene, DLGAP4, may cause deficits in social and cognitive functioning relevant to ASD-like neurodevelopmental disorders.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Obsessive-compulsive Disorder; Knockout Mouse Model; Synaptic Plasticity; Hippocampal; Proteins; Communication; Mutations; Deletion; Variants; Localization
Sprache
Veröffentlichungsjahr 2019
HGF-Berichtsjahr 2019
ISSN (print) / ISBN 2158-3188
e-ISSN 2158-3188
Zeitschrift Translational Psychiatry
Quellenangaben Band: 9, Heft: 1, Seiten: , Artikelnummer: 7 Supplement: ,
Verlag Nature Publishing Group
Verlagsort Macmillan Building, 4 Crinan St, London N1 9xw, England
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Experimental Genetics (IEG)
POF Topic(s) 30201 - Metabolic Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500600-001
G-500692-001
DOI 10.1038/s41398-018-0327-z
WOS ID WOS:000473153900002
Scopus ID 85060214136
PubMed ID 30664629
Erfassungsdatum 2019-03-04
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