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Items: 1 to 20 of 82

1.
Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1
Menelaos Pipis, Seongsik Won, Roy Poh, Stephanie Efthymiou, James M Polke, Mariola Skorupinska, Julian Blake, Alexander M Rossor, John J Moran, Pinki Munot, Francesco Muntoni, Matilde Laura, John Svaren, Mary M Reilly
Brain. 2023 Oct; 146(10): 4025–4032. Published online 2023 Jun 20. doi: 10.1093/brain/awad203
PMCID:
PMC10545524
AbstractArticlePDF–698K
2.
Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A
Jonas Van Lent, Leen Vendredy, Elias Adriaenssens, Tatiana Da Silva Authier, Bob Asselbergh, Marcus Kaji, Sarah Weckhuysen, Ludo Van Den Bosch, Jonathan Baets, Vincent Timmerman
Brain. 2023 Jul; 146(7): 2885–2896. Published online 2022 Dec 13. doi: 10.1093/brain/awac475
PMCID:
PMC10316758
AbstractArticlePDF–1.2M
3.
Assessment of community efforts to advance network-based prediction of protein–protein interactions
Xu-Wen Wang, Lorenzo Madeddu, Kerstin Spirohn, Leonardo Martini, Adriano Fazzone, Luca Becchetti, Thomas P. Wytock, István A. Kovács, Olivér M. Balogh, Bettina Benczik, Mátyás Pétervári, Bence Ágg, Péter Ferdinandy, Loan Vulliard, Jörg Menche, Stefania Colonnese, Manuela Petti, Gaetano Scarano, Francesca Cuomo, Tong Hao, Florent Laval, Luc Willems, Jean-Claude Twizere, Marc Vidal, Michael A. Calderwood, Enrico Petrillo, Albert-László Barabási, Edwin K. Silverman, Joseph Loscalzo, Paola Velardi, Yang-Yu Liu
Nat Commun. 2023; 14: 1582. Published online 2023 Mar 22. doi: 10.1038/s41467-023-37079-7
PMCID:
PMC10033937
AbstractArticlePDF–1.5M
4.
How T118M peripheral myelin protein 22 predisposes humans to Charcot–Marie–Tooth disease
Katherine M. Stefanski, Geoffrey C. Li, Justin T. Marinko, Bruce D. Carter, David C. Samuels, Charles R. Sanders
J Biol Chem. 2023 Feb; 299(2): 102839. Published online 2022 Dec 26. doi: 10.1016/j.jbc.2022.102839
PMCID:
PMC9860121
AbstractArticlePDF–2.9M
5.
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients
Na Young Jung, Hye Mi Kwon, Da Eun Nam, Nasrin Tamanna, Ah Jin Lee, Sang Beom Kim, Byung-Ok Choi, Ki Wha Chung
Genes (Basel) 2022 Jul; 13(7): 1219. Published online 2022 Jul 8. doi: 10.3390/genes13071219
PMCID:
PMC9321036
AbstractArticlePDF–32M
6.
Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report
Haitian Nan, Yunqing Wu, Shilei Cui, Houliang Sun, Jiawei Wang, Ying Li, Lingchao Meng, Takamura Nagasaka, Liyong Wu
BMC Neurol. 2022; 22: 17. Published online 2022 Jan 7. doi: 10.1186/s12883-021-02538-5
PMCID:
PMC8740465
AbstractArticlePDF–1.4M
7.
Inhibition of protein PMP22 enhances etoposide-induced cell apoptosis by p53 signaling pathway in Gastric Cancer
Jingjing Hou, Lin Wang, Jiabao Zhao, Huiqin Zhuo, Jia Cheng, Xin Chen, Wei Zheng, Zhijun Hong, Jianchun Cai
Int J Biol Sci. 2021; 17(12): 3145–3157. Published online 2021 Jul 25. doi: 10.7150/ijbs.59825
PMCID:
PMC8375224
AbstractArticlePDF–2.0M
8.
Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies
Marina Stavrou, Irene Sargiannidou, Elena Georgiou, Alexia Kagiava, Kleopas A. Kleopa
Int J Mol Sci. 2021 Jun; 22(11): 6048. Published online 2021 Jun 3. doi: 10.3390/ijms22116048
PMCID:
PMC8199910
AbstractArticlePDF–1.1M
9.
Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22
Justin T. Marinko, Madison T. Wright, Jonathan P. Schlebach, Katherine R. Clowes, Darren R. Heintzman, Lars Plate, Charles R. Sanders
J Biol Chem. 2021 Jan-Jun; 296: 100719. Published online 2021 Apr 30. doi: 10.1016/j.jbc.2021.100719
PMCID:
PMC8191293
AbstractArticlePDF–2.2M
10.
Ion mobility–mass spectrometry reveals the role of peripheral myelin protein dimers in peripheral neuropathy
Sarah M. Fantin, Kristine F. Parson, Pramod Yadav, Brock Juliano, Geoffrey C. Li, Charles R. Sanders, Melanie D. Ohi, Brandon T. Ruotolo
Proc Natl Acad Sci U S A. 2021 Apr 27; 118(17): e2015331118. Published online 2021 Apr 23. doi: 10.1073/pnas.2015331118
PMCID:
PMC8092585
AbstractArticlePDF–1.3M
11.
Knockdown of Peripheral Myelin Protein 22 Inhibits the Progression of Chronic Myeloid Leukemia
Hui Liu, Hui-qin Cao, Jin-bao Ta, Wen Zhang, Yu-hong Liu
Oncol Res. 2015; 22(5-6): 259–265. Published online 2015 Nov 25. doi: 10.3727/096504015X14410238486603
PMCID:
PMC7842503
AbstractArticlePDF–4.7M
12.
Direct relationship between increased expression and mistrafficking of the Charcot–Marie–Tooth–associated protein PMP22
Justin T. Marinko, Bruce D. Carter, Charles R. Sanders
J Biol Chem. 2020 Aug 21; 295(34): 11963–11970. Published online 2020 Jul 9. doi: 10.1074/jbc.AC120.014940
PMCID:
PMC7443497
AbstractArticlePDF–1.8M
13.
Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves
Harrison Pantera, Bo Hu, Daniel Moiseev, Chris Dunham, Jibraan Rashid, John J Moran, Kathleen Krentz, C Dustin Rubinstein, Seongsik Won, Jun Li, John Svaren
Hum Mol Genet. 2020 Jun 27; 29(10): 1689–1699. Published online 2020 Apr 30. doi: 10.1093/hmg/ddaa082
PMCID:
PMC7322568
AbstractArticlePDF–1.1M
14.
Peripheral myelin protein 22 preferentially partitions into ordered phase membrane domains
Justin T. Marinko, Anne K. Kenworthy, Charles R. Sanders
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14168–14177. Published online 2020 Jun 8. doi: 10.1073/pnas.2000508117
PMCID:
PMC7322011
AbstractArticlePDF–1.1M
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.
Regulating PMP22 Expression as a Dosage Sensitive Neuropathy Gene
Harrison Pantera, Michael E. Shy, John Svaren
Brain Res. Author manuscript; available in PMC 2021 Jan 1.
Published in final edited form as: Brain Res. 2020 Jan 1; 1726: 146491. Published online 2019 Oct 3. doi: 10.1016/j.brainres.2019.146491
PMCID:
PMC7006452
AbstractArticlePDF–787K
17.
Peripheral Myelin Protein 22 and Protein Zero: a Novel Association in Peripheral Nervous System Myelin
Donatella D’Urso, Peter Ehrhardt, Hans Werner Müller
J Neurosci. 1999 May 1; 19(9): 3396–3403. doi: 10.1523/JNEUROSCI.19-09-03396.1999
PMCID:
PMC6782240
AbstractArticlePDF–845K
18.
Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology
Carlos G. Vanoye, Masayoshi Sakakura, Rose M. Follis, Alexandra J. Trevisan, Malathi Narayan, Jun Li, Charles R. Sanders, Bruce D. Carter
J Biol Chem. 2019 Aug 9; 294(32): 12054–12065. Published online 2019 Jun 18. doi: 10.1074/jbc.RA118.006248
PMCID:
PMC6690708
AbstractArticlePDF–2.7M
19.
Peripheral Myelin Protein 22 Is in Complex with α6β4 Integrin, and Its Absence Alters the Schwann Cell Basal Lamina
Stephanie A. Amici, William A. Dunn, Jr, Andrew J. Murphy, Niels C. Adams, Nicholas W. Gale, David M. Valenzuela, George D. Yancopoulos, Lucia Notterpek
J Neurosci. 2006 Jan 25; 26(4): 1179–1189. doi: 10.1523/JNEUROSCI.2618-05.2006
PMCID:
PMC6674566
AbstractArticlePDF–713K
20.
Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer
Harrison Pantera, John J Moran, Holly A Hung, Evgenia Pak, Amalia Dutra, John Svaren
Hum Mol Genet. 2018 Aug 15; 27(16): 2830–2839. Published online 2018 May 16. doi: 10.1093/hmg/ddy191
PMCID:
PMC6077802
AbstractArticlePDF–813K

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