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Items: 1 to 20 of 54

1.
CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility
Patricia Nora Awad, Valerio Zerbi, Erin M. Johnson-Venkatesh, Francesca Damiani, Marco Pagani, Marija Markicevic, Sarah Nickles, Alessandro Gozzi, Hisashi Umemori, Michela Fagiolini
Mol Psychiatry. 2024; 29(6): 1698–1709. Published online 2023 Feb 3. doi: 10.1038/s41380-023-01962-y
PMCID:
PMC11371650
AbstractArticlePDF–2.5M
2.
Cell type-specific expression, regulation and compensation of CDKL5 activity in mouse brain
Margaux Silvestre, Kelvin Dempster, Simeon R. Mihaylov, Suzanne Claxton, Sila K. Ultanir
Mol Psychiatry. 2024; 29(6): 1844–1856. Published online 2024 Feb 8. doi: 10.1038/s41380-024-02434-7
PMCID:
PMC11371643
AbstractArticlePDF–2.7M
3.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
4.
CDKL5 regulates p62-mediated selective autophagy and confers protection against neurotropic viruses
Josephine W. Thinwa, Zhongju Zou, Emily Parks, Salwa Sebti, Kelvin Hui, Yongjie Wei, Mohammad Goodarzi, Vibha Singh, Greg Urquhart, Jenna L. Jewell, Julie K. Pfeiffer, Beth Levine, Tiffany A. Reese, Michael U. Shiloh
J Clin Invest. 2024 Jan 2; 134(1): e168544. Published online 2024 Jan 2. doi: 10.1172/JCI168544
PMCID:
PMC10760973
AbstractArticlePDF–20M
5.
Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability
Marisol Sampedro-Castañeda, Lucas L. Baltussen, André T. Lopes, Yichen Qiu, Liina Sirvio, Simeon R. Mihaylov, Suzanne Claxton, Jill C. Richardson, Gabriele Lignani, Sila K. Ultanir
Nat Commun. 2023; 14: 7830. Published online 2023 Dec 11. doi: 10.1038/s41467-023-43475-w
PMCID:
PMC10713615
AbstractArticlePDF–1.8M
6.
Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder
Nicola Mottolese, Beatrice Uguagliati, Marianna Tassinari, Camilla Bruna Cerchier, Manuela Loi, Giulia Candini, Roberto Rimondini, Giorgio Medici, Stefania Trazzi, Elisabetta Ciani
Biomolecules. 2023 Sep; 13(9): 1396. Published online 2023 Sep 15. doi: 10.3390/biom13091396
PMCID:
PMC10527551
AbstractArticlePDF–3.2M
7.
KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility
Juan Gu, Pingyang Ke, Haokun Guo, Jing Liu, Yan Liu, Xin Tian, Zhuo Huang, Xin Xu, Demei Xu, Yuanlin Ma, Xuefeng Wang, Fei Xiao
Cell Death Differ. 2023 Jul; 30(7): 1726–1741. Published online 2023 May 4. doi: 10.1038/s41418-023-01174-5
PMCID:
PMC10307852
AbstractArticlePDF–8.8M
8.
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome
Brianna K. Unda, Leon Chalil, Sehyoun Yoon, Savannah Kilpatrick, Courtney Irwin, Sansi Xing, Nadeem Murtaza, Anran Cheng, Chad Brown, Alexandria Afonso, Elizabeth McCready, Gabriel M. Ronen, Jennifer Howe, Aurélie Caye-Eude, Alain Verloes, Brad W. Doble, Laurence Faivre, Antonio Vitobello, Stephen W. Scherer, Yu Lu, Peter Penzes, Karun K. Singh
Mol Psychiatry. 2023; 28(4): 1747–1769. Published online 2023 Jan 6. doi: 10.1038/s41380-022-01937-5
PMCID:
PMC10208958
AbstractArticlePDF–7.0M
9.
USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities
Chao Liu, Lingang Sun, Yijun Tan, Qi Wang, Tao Luo, Chenlu Li, Nan Yao, Yuting Xie, Xiao Yi, Yi Zhu, Tiannan Guo, Junfeng Ji
Sci Adv. 2023 May; 9(20): eade3888. Published online 2023 May 17. doi: 10.1126/sciadv.ade3888
PMCID:
PMC10191441
AbstractArticlePDF–2.4M
10.
Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder
Manuela Loi, Stefano Bastianini, Giulia Candini, Nicola Rizzardi, Giorgio Medici, Valentina Papa, Laura Gennaccaro, Nicola Mottolese, Marianna Tassinari, Beatrice Uguagliati, Chiara Berteotti, Viviana Lo Martire, Giovanna Zoccoli, Giovanna Cenacchi, Stefania Trazzi, Christian Bergamini, Elisabetta Ciani
Int J Mol Sci. 2023 Mar; 24(6): 5552. Published online 2023 Mar 14. doi: 10.3390/ijms24065552
PMCID:
PMC10059787
AbstractArticlePDF–5.0M
11.
Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether
Roberta De Rosa, Serena Valastro, Clara Cambria, Isabella Barbiero, Carolina Puricelli, Marco Tramarin, Silvia Randi, Massimiliano Bianchi, Flavia Antonucci, Charlotte Kilstrup-Nielsen
Int J Mol Sci. 2023 Jan; 24(1): 68. Published online 2022 Dec 21. doi: 10.3390/ijms24010068
PMCID:
PMC9820583
AbstractArticlePDF–2.6M
12.
Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models
Hamid Meziane, Marie-Christine Birling, Olivia Wendling, Sophie Leblanc, Aline Dubos, Mohammed Selloum, Guillaume Pavlovic, Tania Sorg, Vera M. Kalscheuer, Pierre Billuart, Frédéric Laumonnier, Jamel Chelly, Hans van Bokhoven, Yann Herault
Biomedicines. 2022 Dec; 10(12): 3148. Published online 2022 Dec 6. doi: 10.3390/biomedicines10123148
PMCID:
PMC9775489
AbstractArticlePDF–2.8M
13.
Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mouse model of CDKL5 deficiency disorder
Claudia Fuchs, Livia Cosentino, Chiara Urbinati, Maria Cristina Talamo, Giorgio Medici, Maria Cristina Quattrini, Nicola Mottolese, Donatella Pietraforte, Andrea Fuso, Elisabetta Ciani, Bianca De Filippis
CNS Neurosci Ther. 2022 Nov; 28(11): 1718–1732. Published online 2022 Aug 6. doi: 10.1111/cns.13907
PMCID:
PMC9532911
AbstractArticlePDF–2.3M
14.
Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency
Anna Adhikari, Fiona K B Buchanan, Timothy A Fenton, David L Cameron, Julian A N M Halmai, Nycole A Copping, Kyle D Fink, Jill L Silverman
Hum Mol Genet. 2022 Sep 15; 31(18): 3032–3050. Published online 2022 Apr 21. doi: 10.1093/hmg/ddac091
PMCID:
PMC9476626
AbstractArticlePDF–1.7M
15.
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome
Stephanie A. Zlatic, Duc Duong, Kamal K.E. Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J. Fink, Omar Khwaja, Lindsay C. Swanson, Mustafa Sahin, Sruti Rayaprolu, Prateek Kumar, Srikant Rangaraju, Adrian Bird, Daniel Tarquinio, Randall Carpenter, Stuart Cobb, Victor Faundez
iScience. 2022 Sep 16; 25(9): 104966. Published online 2022 Aug 17. doi: 10.1016/j.isci.2022.104966
PMCID:
PMC9437849
AbstractArticlePDF–6.8M
16.
Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder
Alessia Di Nardo, Alina Rühmkorf, Patricia Award, Ashton Brennecke, Michela Fagiolini, Mustafa Sahin
Neurosci Res. Author manuscript; available in PMC 2022 Mar 29.
Published in final edited form as: Neurosci Res. 2022 Mar; 176: 73–78. Published online 2021 Oct 5. doi: 10.1016/j.neures.2021.10.001
PMCID:
PMC8960319
AbstractArticlePDF–1.3M
17.
Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms
Patrick J. Mulcahey, Sheng Tang, Hajime Takano, Alicia White, Dayana R. Davila Portillo, Owen M. Kane, Eric D. Marsh, Zhaolan Zhou, Douglas A. Coulter
Exp Neurol. Author manuscript; available in PMC 2022 Feb 18.
Published in final edited form as: Exp Neurol. 2020 Oct; 332: 113388. Published online 2020 Jun 22. doi: 10.1016/j.expneurol.2020.113388
PMCID:
PMC8855336
AbstractArticlePDF–1.6M
18.
CDKL5 Deficiency Augments Inhibitory Input into the Dentate Gyrus That Can Be Reversed by Deep Brain Stimulation
Shuang Hao, Qi Wang, Bin Tang, Zhenyu Wu, Tingting Yang, Jianrong Tang
J Neurosci. 2021 Oct 27; 41(43): 9031–9046. doi: 10.1523/JNEUROSCI.1010-21.2021
PMCID:
PMC8549531
AbstractArticlePDF–3.3M
19.
Temporal manipulation of Cdkl5 reveals essential postdevelopmental functions and reversible CDKL5 deficiency disorder–related deficits
Barbara Terzic, M. Felicia Davatolhagh, Yugong Ho, Sheng Tang, Yu-Ting Liu, Zijie Xia, Yue Cui, Marc V. Fuccillo, Zhaolan Zhou
J Clin Invest. 2021 Oct 15; 131(20): e143655. Published online 2021 Oct 15. doi: 10.1172/JCI143655
PMCID:
PMC8516470
AbstractArticlePDF–3.4M
20.
Inhibition of microglia overactivation restores neuronal survival in a mouse model of CDKL5 deficiency disorder
Giuseppe Galvani, Nicola Mottolese, Laura Gennaccaro, Manuela Loi, Giorgio Medici, Marianna Tassinari, Claudia Fuchs, Elisabetta Ciani, Stefania Trazzi
J Neuroinflammation. 2021; 18: 155. Published online 2021 Jul 8. doi: 10.1186/s12974-021-02204-0
PMCID:
PMC8265075
AbstractArticlePDF–3.5M

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