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Select item 105455241.

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

Abstract Article PDF–698K

Select item 103167582.

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

Abstract Article PDF–1.2M

Select item 100339373.

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

Abstract Article PDF–1.5M

Select item 98601214.

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

Abstract Article PDF–2.9M

Select item 93210365.

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

Abstract Article PDF–32M

Select item 87404656.

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

Abstract Article PDF–1.4M

Select item 83752247.

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

Abstract Article PDF–2.0M

Select item 81999108.

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

Abstract Article PDF–1.1M

Select item 81912939.

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

Abstract Article PDF–2.2M

Select item 809258510.

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

Abstract Article PDF–1.3M

Select item 784250311.

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

Abstract Article PDF–4.7M

Select item 744349712.

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

Abstract Article PDF–1.8M

Select item 732256813.

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

Abstract Article PDF–1.1M

Select item 732201114.

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

Abstract Article PDF–1.1M

Select item 716998315.

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

Abstract Article PDF–5.4M

Select item 700645216.

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

Abstract Article PDF–787K

Select item 678224017.

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

Abstract Article PDF–845K

Select item 669070818.

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

Abstract Article PDF–2.7M

Select item 667456619.

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

Abstract Article PDF–713K

Select item 607780220.

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

Abstract Article PDF–813K

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