RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.
Autorzy:
Proietti Onori M; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands. Koene LMC; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands. Schäfer CB; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands. Nellist M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid Holland, the Netherlands. de Brito van Velze M; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands. Gao Z; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands. Elgersma Y; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid Holland, the Netherlands. vanWoerdenGM; Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Zuid Holland, the Netherlands.
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Źródło:
PLoS biology [PLoS Biol] 2021 May 26; Vol. 19 (5), pp. e3001279. Date of Electronic Publication: 2021 May 26 (Print Publication: 2021).
Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome.
Autorzy:
Sonzogni M; Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN, Rotterdam, The Netherlands. Zhai P; Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN, Rotterdam, The Netherlands.; Department of Neurology, The First Affiliated Hospital of Henan University, No.357, Ximendajie Street, Kaifeng City, Henan Province, China. Mientjes EJ; Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN, Rotterdam, The Netherlands. vanWoerdenGM; Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN, Rotterdam, The Netherlands. Elgersma Y; Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN, Rotterdam, The Netherlands. .
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Źródło:
Molecular autism [Mol Autism] 2020 Sep 18; Vol. 11 (1), pp. 70. Date of Electronic Publication: 2020 Sep 18.
CaMKII controls neuromodulation via neuropeptide gene expression and axonal targeting of neuropeptide vesicles.
Autorzy:
Moro A; Department of Clinical Genetics, Center for Neurogenomics and Cognitive Research (CNCR), University Medical Center Amsterdam, Amsterdam, the Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit (VU) Amsterdam, Amsterdam, the Netherlands. vanWoerdenGM; Department of Neuroscience, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, the Netherlands. Toonen RF; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit (VU) Amsterdam, Amsterdam, the Netherlands. Verhage M; Department of Clinical Genetics, Center for Neurogenomics and Cognitive Research (CNCR), University Medical Center Amsterdam, Amsterdam, the Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), Vrije Universiteit (VU) Amsterdam, Amsterdam, the Netherlands.
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Źródło:
PLoS biology [PLoS Biol] 2020 Aug 10; Vol. 18 (8), pp. e3000826. Date of Electronic Publication: 2020 Aug 10 (Print Publication: 2020).
The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons.
Autorzy:
Tonazzini I; Istituto Nanoscienze- Consiglio Nazionale delle Ricerche (CNR) & Scuola Normale Superiore, NEST, Piazza San Silvestro 12, 56127 Pisa, Italy.; 2Department of Neuroscience, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Wytemaweg 80, 3000 CA Rotterdam, the Netherlands. VanWoerdenGM; 2Department of Neuroscience, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Wytemaweg 80, 3000 CA Rotterdam, the Netherlands. Masciullo C; Istituto Nanoscienze- Consiglio Nazionale delle Ricerche (CNR) & Scuola Normale Superiore, NEST, Piazza San Silvestro 12, 56127 Pisa, Italy. Mientjes EJ; 2Department of Neuroscience, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Wytemaweg 80, 3000 CA Rotterdam, the Netherlands. Elgersma Y; 2Department of Neuroscience, ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Wytemaweg 80, 3000 CA Rotterdam, the Netherlands. Cecchini M; Istituto Nanoscienze- Consiglio Nazionale delle Ricerche (CNR) & Scuola Normale Superiore, NEST, Piazza San Silvestro 12, 56127 Pisa, Italy.
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Źródło:
Molecular autism [Mol Autism] 2019 Nov 29; Vol. 10, pp. 41. Date of Electronic Publication: 2019 Nov 29 (Print Publication: 2019).
Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.
Autorzy:
Sonzogni M; 1Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN Rotterdam, The Netherlands. Hakonen J; 1Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN Rotterdam, The Netherlands. Bernabé Kleijn M; 1Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN Rotterdam, The Netherlands. Silva-Santos S; 1Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN Rotterdam, The Netherlands. Judson MC; 2Neuroscience Center, Department of Cell Biology and Physiology, and Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC USA. Philpot BD; 2Neuroscience Center, Department of Cell Biology and Physiology, and Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC USA. vanWoerdenGM; 1Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN Rotterdam, The Netherlands. Elgersma Y; 1Department of Neuroscience and the ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 CN Rotterdam, The Netherlands.
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Źródło:
Molecular autism [Mol Autism] 2019 May 22; Vol. 10, pp. 23. Date of Electronic Publication: 2019 May 22 (Print Publication: 2019).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs and novel Ube3a mutants.
Autorzy:
Sonzogni M; 1Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.; 2ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands. Wallaard I; 1Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.; 2ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands. Santos SS; 1Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.; 2ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands. Kingma J; 1Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.; 2ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands. du Mee D; 1Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.; 2ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands. vanWoerdenGM; 1Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.; 2ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands. Elgersma Y; 1Department of Neuroscience, Erasmus Medical Center, Rotterdam, Netherlands.; 2ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, Netherlands.
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Źródło:
Molecular autism [Mol Autism] 2018 Sep 14; Vol. 9, pp. 47. Date of Electronic Publication: 2018 Sep 14 (Print Publication: 2018).
The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion.
Autorzy:
Kool MJ; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands. van de Bree JE; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands. Bodde HE; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands. Elgersma Y; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands. vanWoerdenGM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, The Netherlands.
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Źródło:
Scientific reports [Sci Rep] 2016 May 31; Vol. 6, pp. 26989. Date of Electronic Publication: 2016 May 31.
Neurofibromin regulates HCN activity in Parvalbumin-positive interneurons.
Autorzy:
Omrani A; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands. vanWoerdenGM; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands. Elgersma Y; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1.
Autorzy:
Omrani A; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands. van der Vaart T; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Pediatrics, Erasmus Medical Center, Sophia Children's Hospital, Rotterdam, The Netherlands. Mientjes E; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands. vanWoerdenGM; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands. Hojjati MR; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Physiology, Shahrekord University of Medical Sciences, Shahrekord, Iran. Li KW; Department of Molecular and Cellular Neurobiology, CNCR, Neuroscience Campus Amsterdam, VU University, Amsterdam, The Netherlands. Gutmann DH; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA. Levelt CN; Department of Molecular Visual Plasticity, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands. Smit AB; Department of Molecular and Cellular Neurobiology, CNCR, Neuroscience Campus Amsterdam, VU University, Amsterdam, The Netherlands. Silva AJ; Department of Neurobiology, Brain Research Institute, University of California Los Angeles, Los Angeles, CA, USA. Kushner SA; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands. Elgersma Y; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
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Źródło:
Molecular psychiatry [Mol Psychiatry] 2015 Nov; Vol. 20 (11), pp. 1311-21. Date of Electronic Publication: 2015 Apr 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
Non-associative potentiation of perisomatic inhibition alters the temporal coding of neocortical layer 5 pyramidal neurons.
Autorzy:
Lourenço J; European Brain Research Institute, Rome, Italy; Sorbonne Universités UPMC Univ. Paris 06, UMR S 1127, Paris, France; Inserm U 1127, Paris, France; CNRS UMR 7225, Paris, France; ICM- Institut du Cerveau et de la Moelle épinière, Paris, France. Pacioni S; European Brain Research Institute, Rome, Italy. Rebola N; CNRS UMR 3571, Paris, France; Institut Pasteur, Unit of Dynamic Neuronal Imaging, Paris, France. vanWoerdenGM; European Brain Research Institute, Rome, Italy; Sorbonne Universités UPMC Univ. Paris 06, UMR S 1127, Paris, France; Inserm U 1127, Paris, France; CNRS UMR 7225, Paris, France; ICM- Institut du Cerveau et de la Moelle épinière, Paris, France. Marinelli S; European Brain Research Institute, Rome, Italy. DiGregorio D; CNRS UMR 3571, Paris, France; Institut Pasteur, Unit of Dynamic Neuronal Imaging, Paris, France. Bacci A; European Brain Research Institute, Rome, Italy; Sorbonne Universités UPMC Univ. Paris 06, UMR S 1127, Paris, France; Inserm U 1127, Paris, France; CNRS UMR 7225, Paris, France; ICM- Institut du Cerveau et de la Moelle épinière, Paris, France.
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Źródło:
PLoS biology [PLoS Biol] 2014 Jul 08; Vol. 12 (7), pp. e1001903. Date of Electronic Publication: 2014 Jul 08 (Print Publication: 2014).
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