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Items: 1 to 20 of 57

1.
PRRT2‐positive self‐limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers
Jiwon Lee, Young Ok Kim, Byung Chan Lim, Jeehun Lee
Epilepsia Open. 2023 Jun; 8(2): 436–443. Published online 2023 Feb 20. doi: 10.1002/epi4.12708
PMCID:
PMC10235569
AbstractArticlePDF–660K
2.
The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na+ channels
Francesca Franchi, Antonella Marte, Beatrice Corradi, Bruno Sterlini, Giulio Alberini, Alessandra Romei, Antonio De Fusco, Alexander Vogel, Luca Maragliano, Pietro Baldelli, Anna Corradi, Pierluigi Valente, Fabio Benfenati
J Biol Chem. 2023 May; 299(5): 104632. Published online 2023 Mar 22. doi: 10.1016/j.jbc.2023.104632
PMCID:
PMC10164911
AbstractArticlePDF–2.5M
3.
A Push–Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels
Pierluigi Valente, Antonella Marte, Francesca Franchi, Bruno Sterlini, Silvia Casagrande, Anna Corradi, Pietro Baldelli, Fabio Benfenati
Mol Neurobiol. 2023; 60(3): 1281–1296. Published online 2022 Nov 28. doi: 10.1007/s12035-022-03112-x
PMCID:
PMC9899197
AbstractArticlePDF–1.6M
4.
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
5.
Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy
Zhaoyu Wang, Huijie Dong, Xiaofei Ji, Siyu Luan, Hua Cao
J Clin Lab Anal. 2021 Jun; 35(6): e23772. Published online 2021 Apr 7. doi: 10.1002/jcla.23772
PMCID:
PMC8183916
AbstractArticlePDF–422K
6.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
7.
Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families
Jialinzi He, Haiyun Tang, Chaorong Liu, Langzi Tan, Wenbiao Xiao, Bo Xiao, Hongyu Long, Lili Long
Exp Ther Med. 2021 May; 21(5): 504. Published online 2021 Mar 18. doi: 10.3892/etm.2021.9935
PMCID:
PMC8005681
AbstractArticlePDF–1.0M
8.
Oncogenic Role of MicroRNA-30b-5p in Glioblastoma Through Targeting Proline-Rich Transmembrane Protein 2
Zhongjun Li, Junxiu Guo, Yujie Ma, Longbo Zhang, Zhixiong Lin
Oncol Res. 2018; 26(2): 219–230. Published online 2018 Mar 5. doi: 10.3727/096504017X14944585873659
PMCID:
PMC7844647
AbstractArticlePDF–19M
9.
Proline-rich transmembrane protein 2 (PRRT2) regulates the actin cytoskeleton during synaptogenesis
Elisa Savino, Romina Inès Cervigni, Miriana Povolo, Alessandra Stefanetti, Daniele Ferrante, Pierluigi Valente, Anna Corradi, Fabio Benfenati, Fabrizia Claudia Guarnieri, Flavia Valtorta
Cell Death Dis. 2020 Oct; 11(10): 856. Published online 2020 Oct 14. doi: 10.1038/s41419-020-03073-w
PMCID:
PMC7560900
AbstractArticlePDF–3.5M
10.
Protein and mRNA expression of protein kinase C (PKC) in the postmortem brain of bipolar and schizophrenic subjects
Ghanshyam N. Pandey, Hooriyah S. Rizavi, Xinguo Ren
J Psychiatr Res. Author manuscript; available in PMC 2021 Nov 1.
Published in final edited form as: J Psychiatr Res. 2020 Nov; 130: 362–371. Published online 2020 Aug 9. doi: 10.1016/j.jpsychires.2020.07.019
PMCID:
PMC7554203
AbstractArticlePDF–1.1M
11.
Brain structural connectome in relation to PRRT2 mutations in paroxysmal kinesigenic dyskinesia
Lei Li, Du Lei, Xueling Suo, Xiuli Li, Chen Yang, Tianhua Yang, Jiechuan Ren, Guangxiang Chen, Dong Zhou, Graham J. Kemp, Qiyong Gong
Hum Brain Mapp. 2020 Oct 1; 41(14): 3855–3866. Published online 2020 Jun 27. doi: 10.1002/hbm.25091
PMCID:
PMC7469858
AbstractArticlePDF–1.9M
12.
Different experiences of two PRRT2-associated self-limited familial infantile epilepsy
Qianlei Zhao, Zhenwei Liu, Ying Hu, Shiyu Fang, Feixia Zheng, Xiucui Li, Feng Li, Zhongdong Lin
Acta Neurol Belg. 2020; 120(4): 1025–1028. Published online 2020 Apr 3. doi: 10.1007/s13760-020-01348-9
PMCID:
PMC7383030
AbstractArticlePDF–607K
13.
A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion
Salem Baldi, Jin-Ling Zhu, Qing-Yun Hu, Ju-Li Wang, Jin-Bo Zhang, Shu-Hong Zhang
Behav Neurol. 2020; 2020: 2097059. Published online 2020 May 18. doi: 10.1155/2020/2097059
PMCID:
PMC7251426
AbstractArticlePDF–810K
14.
Novel and de novo point and large microdeletion mutation in PRRT2‐related epilepsy
Li Yang, Cuiping You, Shiyan Qiu, Xiaofan Yang, Yufen Li, Feng Liu, Dongqing Zhang, Yue Niu, Liyun Xu, Na Xu, Xia Li, Fang Luo, Junli Yang, Baomin Li
Brain Behav. 2020 May; 10(5): e01597. Published online 2020 Mar 31. doi: 10.1002/brb3.1597
PMCID:
PMC7218244
AbstractArticlePDF–1.7M
15.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
16.
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
17.
Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2‐related disorders
Shao‐Yun Zhao, Li‐Xi Li, Yu‐Lan Chen, Yi‐Jun Chen, Gong‐Lu Liu, Hai‐Lin Dong, Dian‐Fu Chen, Hong‐Fu Li, Zhi‐Ying Wu
CNS Neurosci Ther. 2020 Jan; 26(1): 39–46. Published online 2019 May 23. doi: 10.1111/cns.13147
PMCID:
PMC6930815
AbstractArticlePDF–1.4M
18.
PRRT2 c.649dupC Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia
Hong‐Fu Li, Wang Ni, Zhi‐Qi Xiong, Jianfeng Xu, Zhi‐Ying Wu
CNS Neurosci Ther. 2013 Jan; 19(1): 61–65. Published online 2012 Nov 24. doi: 10.1111/cns.12034
PMCID:
PMC6493561
AbstractArticlePDF–121K
19.
16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability
Wen Li, Yifan Wang, Bin Li, Bin Tang, Hui Sun, Jinxing Lai, Na He, Bingmei Li, Heng Meng, Weiping Liao, Xiaorong Liu
Brain Behav. 2018 Nov; 8(11): e01134. Published online 2018 Oct 11. doi: 10.1002/brb3.1134
PMCID:
PMC6236233
AbstractArticlePDF–754K
20.
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

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