A Novel Mecp2(Y120D) Knock-in Model Displays Similar Behavioral Traits But 
Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision 
Medicine for the Treatment of Rett Syndrome

Gandaglia, Anna; Brivio, Elena; Carli, Sara; Palmieri, Michela; Bedogni, Francesco; Stefanelli, Gilda; Bergo, Anna; Leva, Barbara; Cattaneo, Chiara; Pizzamiglio, Lara; Cicerone, Marco; Bianchi, Veronica; Kilstrup-Nielsen, Charlotte; D'Annessa, Ilda; Di Marino, Daniele; D'Adamo, Patrizia; Antonucci, Flavia; Frasca, Angelisa; Landsberger, Nicoletta

doi:10.1007/s12035-018-1412-2

A Novel Mecp2(Y120D) Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome

Gandaglia, A., Brivio, E., Carli, S., Palmieri, M., Bedogni, F., Stefanelli, G., Bergo, A., Leva, B., Cattaneo, C., Pizzamiglio, L., Cicerone, M., Bianchi, V., Kilstrup-Nielsen, C., D'Annessa, I., Di Marino, D., D'Adamo, P., Antonucci, F., Frasca, A., & Landsberger, N. (2019). A Novel Mecp2(Y120D) Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome. Molecular Neurobiology, 56(7), 4838-4854. doi:10.1007/s12035-018-1412-2.

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アイテムのパーマリンク: https://hdl.handle.net/21.11116/0000-0005-FFA5-2 版のパーマリンク: https://hdl.handle.net/21.11116/0000-0005-FFA6-1

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Gandaglia, Anna, 著者
Brivio, Elena¹, 著者
Carli, Sara, 著者
Palmieri, Michela, 著者
Bedogni, Francesco, 著者
Stefanelli, Gilda, 著者
Bergo, Anna, 著者
Leva, Barbara, 著者
Cattaneo, Chiara, 著者
Pizzamiglio, Lara, 著者
Cicerone, Marco, 著者
Bianchi, Veronica, 著者
Kilstrup-Nielsen, Charlotte, 著者
D'Annessa, Ilda, 著者
Di Marino, Daniele, 著者
D'Adamo, Patrizia, 著者
Antonucci, Flavia, 著者
Frasca, Angelisa, 著者
Landsberger, Nicoletta, 著者

所属:
1Dept. Stress Neurobiology and Neurogenetics, Max Planck Institute of Psychiatry, Max Planck Society, Kraepelinstr. 2-10, 80804 Munich, DE, ou_2035294

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要旨: MeCP2 is a fundamental protein associated with several neurological disorders, including Rett syndrome. It is considered a multifunctional factor with a prominent role in regulating chromatin structure; however, a full comprehension of the consequences of its deficiency is still lacking. Here, we characterize a novel mouse model of Mecp2 bearing the human mutation Y120D, which is localized in the methyl-binding domain. As most models of Mecp2, the Mecp2Y120D mouse develops a severe Rett-like phenotype. This mutation alters the interaction of the protein with chromatin, but surprisingly, it also impairs its association with corepressors independently on the involved interacting domains. These features, which become overt mainly in the mature brain, cause a more accessible and transcriptionally active chromatin structure; conversely, in the Mecp2-null brain, we find a less accessible and transcriptionally inactive chromatin. By demonstrating that different MECP2 mutations can produce concordant neurological phenotypes but discordant molecular features, we highlight the importance of considering personalized approaches for the treatment of Rett syndrome.

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言語: eng - English

日付: オンライン出版: 2019-07

出版の状態: オンラインで出版済み

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識別子（DOI, ISBNなど）: ISI: 000483159700018
DOI: 10.1007/s12035-018-1412-2

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出版物名: Molecular Neurobiology

その他 : Mol. Neurobiol.

種別: 学術雑誌

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出版社, 出版地: Clifton, NJ : Humana Press

ページ: - 巻号: 56 (7) 通巻号: - 開始・終了ページ: 4838 - 4854 識別子（ISBN, ISSN, DOIなど）: ISSN: 0893-7648
CoNE: https://pure.mpg.de/cone/journals/resource/954925558500

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