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Items: 1 to 20 of 26

1.
A pH-sensitive closed-loop nanomachine to control hyperexcitability at the single neuron level
Assunta Merolla, Caterina Michetti, Matteo Moschetta, Francesca Vacca, Lorenzo Ciano, Laura Emionite, Simonetta Astigiano, Alessandra Romei, Simone Horenkamp, Ken Berglund, Robert E. Gross, Fabrizia Cesca, Elisabetta Colombo, Fabio Benfenati
Nat Commun. 2024; 15: 5609. Published online 2024 Jul 4. doi: 10.1038/s41467-024-49941-3
PMCID:
PMC11224301
AbstractArticlePDF–2.5M
2.
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
3.
Identification of new ciliary signaling pathways in the brain and insights into neurological disorders
Abdelhalim Loukil, Emma Ebright, Akiyoshi Uezu, Yudong Gao, Scott H Soderling, Sarah C. Goetz
Version 1. bioRxiv. Preprint. 2023 Dec 21. doi: 10.1101/2023.12.20.572700
PMCID:
PMC10769350
AbstractArticlePDF–11M
4.
Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub
Marc P. Forrest, Marc Dos Santos, Nicolas H. Piguel, Yi-Zhi Wang, Nicole A. Hawkins, Vikram A. Bagchi, Leonardo E. Dionisio, Sehyoun Yoon, Dina Simkin, Maria Dolores Martin-de-Saavedra, Ruoqi Gao, Katherine E. Horan, Alfred L. George, Jr., Mark S. LeDoux, Jennifer A. Kearney, Jeffrey N. Savas, Peter Penzes
Nat Commun. 2023; 14: 825. Published online 2023 Feb 17. doi: 10.1038/s41467-023-36087-x
PMCID:
PMC9938216
AbstractArticlePDF–5.3M
5.
Presynaptic PRRT2 deficiency causes cerebellar dysfunction and paroxysmal kinesigenic dyskinesia
Dylan J. Calame, Jianfeng Xiao, Mohammad Moshahid Khan, TJ Hollinsworth, Yi Xue, Abigail L. Person, Mark S. LeDoux
Neuroscience. Author manuscript; available in PMC 2022 Oct 8.
Published in final edited form as: Neuroscience. 2020 Nov 10; 448: 272–286. Published online 2020 Sep 4. doi: 10.1016/j.neuroscience.2020.08.034
PMCID:
PMC9547552
AbstractArticlePDF–1.8M
6.
An Emerging Role of PRRT2 in Regulating Growth Cone Morphology
Elisa Savino, Fabrizia Claudia Guarnieri, Jin-Wu Tsai, Anna Corradi, Fabio Benfenati, Flavia Valtorta
Cells. 2021 Oct; 10(10): 2666. Published online 2021 Oct 5. doi: 10.3390/cells10102666
PMCID:
PMC8534124
AbstractArticlePDF–2.7M
7.
Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases
Fay AJ, McMahon T, Im C, Bair-Marshall C, Niesner KJ, Li H, Nelson A, Voglmaier SM, Fu Y-H, Ptáček LJ
Neurogenetics. 2021; 22(3): 171–185. Published online 2021 Jun 8. doi: 10.1007/s10048-021-00645-6
PMCID:
PMC8241743
AbstractArticlePDF–1.8M
8.
PRRT2 modulates presynaptic Ca2+ influx by interacting with P/Q-type channels
Daniele Ferrante, Bruno Sterlini, Cosimo Prestigio, Antonella Marte, Anna Corradi, Franco Onofri, Giorgio Tortarolo, Giuseppe Vicidomini, Andrea Petretto, Jessica Muià, Agnes Thalhammer, Pierluigi Valente, Lorenzo A. Cingolani, Fabio Benfenati, Pietro Baldelli
Cell Rep. 2021 Jun 15; 35(11): 109248. Published online 2021 Jun 15. doi: 10.1016/j.celrep.2021.109248
PMCID:
PMC8220258
AbstractArticle
9.
An interaction between PRRT2 and Na+/K+ ATPase contributes to the control of neuronal excitability
Bruno Sterlini, Alessandra Romei, Chiara Parodi, Davide Aprile, Michele Oneto, Anita Aperia, Pierluigi Valente, Flavia Valtorta, Anna Fassio, Pietro Baldelli, Fabio Benfenati, Anna Corradi
Cell Death Dis. 2021 Apr; 12(4): 292. Published online 2021 Mar 17. doi: 10.1038/s41419-021-03569-z
PMCID:
PMC7969623
AbstractArticlePDF–2.3M
10.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
11.
PRRT2 frameshift mutation reduces its mRNA stability resulting loss of function in Paroxysmal Kinesigenic Dyskinesia
Yongcheng Pan, Qiong Liu, Jennifer Zhang, Yang Yang, Yun Tian, Junsheng Zeng, Peng Yin, Lin Mei, Wen-cheng Xiong, Xiao-Jiang Li, Shihua Li, Beisha Tang
Biochem Biophys Res Commun. Author manuscript; available in PMC 2021 Feb 12.
Published in final edited form as: Biochem Biophys Res Commun. 2020 Feb 12; 522(3): 553–559. Published online 2019 Nov 27. doi: 10.1016/j.bbrc.2019.11.025
Correction in:
Biochem Biophys Res Commun. 2020 Mar 10
PMCID:
PMC6981028
AbstractArticlePDF–782K
12.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel
PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194
PMCID:
PMC6459510
AbstractArticlePDF–5.1M
13.
PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity
Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, Alessandra Romei, Simona Baldassari, Manuela Fadda, Cosimo Prestigio, Giorgia Giansante, Jacopo Sartorelli, Pia Rossi, Alicia Rubio, Antonio Gambardella, Thierry Nieus, Vania Broccoli, Anna Fassio, Pietro Baldelli, Anna Corradi, Federico Zara, Fabio Benfenati
Brain. 2018 Apr; 141(4): 1000–1016. Published online 2018 Mar 15. doi: 10.1093/brain/awy051
PMCID:
PMC5888929
AbstractArticlePDF–2.1M
14.
PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum
Guo-He Tan, Yuan-Yuan Liu, Lu Wang, Kui Li, Ze-Qiang Zhang, Hong-Fu Li, Zhong-Fei Yang, Yang Li, Dan Li, Ming-Yue Wu, Chun-Lei Yu, Juan-Juan Long, Ren-Chao Chen, Li-Xi Li, Lu-Ping Yin, Ji-Wei Liu, Xue-Wen Cheng, Qi Shen, You-Sheng Shu, Kenji Sakimura, Lu-Jian Liao, Zhi-Ying Wu, Zhi-Qi Xiong
Cell Res. 2018 Jan; 28(1): 90–110. Published online 2017 Oct 20. doi: 10.1038/cr.2017.128
PMCID:
PMC5752836
AbstractArticlePDF–16M
15.
The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations
Caterina Michetti, Enrico Castroflorio, Ivan Marchionni, Nicola Forte, Bruno Sterlini, Francesca Binda, Floriana Fruscione, Pietro Baldelli, Flavia Valtorta, Federico Zara, Anna Corradi, Fabio Benfenati
Neurobiol Dis. 2017 Mar; 99: 66–83. doi: 10.1016/j.nbd.2016.12.018
PMCID:
PMC5321265
AbstractArticle
16.
PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects
Yo-Tsen Liu, Fang-Shin Nian, Wan-Ju Chou, Chin-Yin Tai, Shang-Yeong Kwan, Chien Chen, Pei-Wen Kuo, Po-Hsi Lin, Chin-Yi Chen, Chia-Wei Huang, Yi-Chung Lee, Bing-Wen Soong, Jin-Wu Tsai
Oncotarget. 2016 Jun 28; 7(26): 39184–39196. Published online 2016 May 9. doi: 10.18632/oncotarget.9258
PMCID:
PMC5129924
AbstractArticlePDF–8.6M
17.
PRRT2 Is a Key Component of the Ca2+-Dependent Neurotransmitter Release Machinery
Pierluigi Valente, Enrico Castroflorio, Pia Rossi, Manuela Fadda, Bruno Sterlini, Romina Ines Cervigni, Cosimo Prestigio, Silvia Giovedì, Franco Onofri, Elisa Mura, Fabrizia C. Guarnieri, Antonella Marte, Marta Orlando, Federico Zara, Anna Fassio, Flavia Valtorta, Pietro Baldelli, Anna Corradi, Fabio Benfenati
Cell Rep. 2016 Apr 5; 15(1): 117–131. Published online 2016 Mar 24. doi: 10.1016/j.celrep.2016.03.005
PMCID:
PMC4826441
AbstractArticle
18.
A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE
Pia Rossi, Bruno Sterlini, Enrico Castroflorio, Antonella Marte, Franco Onofri, Flavia Valtorta, Luca Maragliano, Anna Corradi, Fabio Benfenati
J Biol Chem. 2016 Mar 18; 291(12): 6111–6123. Published online 2016 Jan 21. doi: 10.1074/jbc.M115.683888
Correction in:
J Biol Chem. 2018 Mar 23; 293(12): 4581.
PMCID:
PMC4813553
AbstractArticlePDF–3.1M
19.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
20.
Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
Hsien-Yang Lee, Yong Huang, Nadine Bruneau, Patrice Roll, Elisha D.O. Roberson, Mark Hermann, Emily Quinn, James Maas, Robert Edwards, Tetsuo Ashizawa, Betul Baykan, Kailash Bhatia, Susan Bressman, Michiko K. Bruno, Ewout R. Brunt, Roberto Caraballo, Bernard Echenne, Natalio Fejerman, Steve Frucht, Christina A. Gurnett, Edouard Hirsch, Henry Houlden, Joseph Jankovic, Wei-Ling Lee, David R. Lynch, Shehla Mohamed, Ulrich Müller, Mark P. Nespeca, David Renner, Jacques Rochette, Gabrielle Rudolf, Shinji Saiki, Bing-Wen Soong, Kathryn J. Swoboda, Sam Tucker, Nicholas Wood, Michael Hanna, Anne Bowcock, Pierre Szepetowski, Ying-Hui Fu, Louis J. Ptáček
Cell Rep. Author manuscript; available in PMC 2012 Apr 25.
Published in final edited form as: Cell Rep. 2012 Jan 26; 1(1): 2–12. Published online 2011 Dec 15. doi: 10.1016/j.celrep.2011.11.001
PMCID:
PMC3334308
AbstractArticlePDF–1015K

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