Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice
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Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice. / Schob, Claudia; Morellini, Fabio; Ohana, Ora; Bakota, Lidia; Hrynchak, Mariya V; Brandt, Roland; Brockmann, Marco D; Cichon, Nicole; Hartung, Henrike; Hanganu-Opatz, Ileana L; Kraus, Vanessa; Scharf, Sarah; Herrmans-Borgmeyer, Irm; Schweizer, Michaela; Kuhl, Dietmar; Wöhr, Markus; Vörckel, Karl J; Calzada-Wack, Julia; Fuchs, Helmut; Gailus-Durner, Valérie; Hrabě de Angelis, Martin; Garner, Craig C; Kreienkamp, Hans-Jürgen; Kindler, Stefan.
in: TRANSL PSYCHIAT, Jahrgang 9, Nr. 1, 16.01.2019, S. 7.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice
AU - Schob, Claudia
AU - Morellini, Fabio
AU - Ohana, Ora
AU - Bakota, Lidia
AU - Hrynchak, Mariya V
AU - Brandt, Roland
AU - Brockmann, Marco D
AU - Cichon, Nicole
AU - Hartung, Henrike
AU - Hanganu-Opatz, Ileana L
AU - Kraus, Vanessa
AU - Scharf, Sarah
AU - Herrmans-Borgmeyer, Irm
AU - Schweizer, Michaela
AU - Kuhl, Dietmar
AU - Wöhr, Markus
AU - Vörckel, Karl J
AU - Calzada-Wack, Julia
AU - Fuchs, Helmut
AU - Gailus-Durner, Valérie
AU - Hrabě de Angelis, Martin
AU - Garner, Craig C
AU - Kreienkamp, Hans-Jürgen
AU - Kindler, Stefan
PY - 2019/1/16
Y1 - 2019/1/16
N2 - 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.
AB - 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.
KW - Journal Article
U2 - 10.1038/s41398-018-0327-z
DO - 10.1038/s41398-018-0327-z
M3 - SCORING: Journal article
C2 - 30664629
VL - 9
SP - 7
JO - TRANSL PSYCHIAT
JF - TRANSL PSYCHIAT
SN - 2158-3188
IS - 1
ER -