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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 98601213.

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 93210364.

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 81912935.

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 80925856.

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 78425037.

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 74434978.

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 73220119.

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 700645210.

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 585627711.

Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population

Jong Eun Park, Seung-Jae Noh, Mijin Oh, Dae-Yeon Cho, So Young Kim, Chang-Seok Ki

Orphanet J Rare Dis. 2018; 13: 40. Published online 2018 Mar 15. doi: 10.1186/s13023-018-0779-5

PMCID:: PMC5856277

Abstract Article PDF–621K

Select item 584203212.

Elevated Peripheral Myelin Protein 22, Reduced Mitotic Potential, and Proteasome Impairment in Dermal Fibroblasts from Charcot-Marie-Tooth Disease Type 1A Patients

Sooyeon Lee, Hannah Bazick, Vinita Chittoor-Vinod, Mohammed Omar Al Salihi, Guangbin Xia, Lucia Notterpek

Am J Pathol. 2018 Mar; 188(3): 728–738. doi: 10.1016/j.ajpath.2017.10.021

PMCID:: PMC5842032

Abstract Article

Select item 568159013.

Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy

Yi-Chu Liao, Pei-Chien Tsai, Thy-Sheng Lin, Cheng-Tsung Hsiao, Nai-Chen Chao, Kon-Ping Lin, Yi-Chung Lee

Sci Rep. 2017; 7: 15363. Published online 2017 Nov 10. doi: 10.1038/s41598-017-14771-5

PMCID:: PMC5681590

Abstract Article PDF–2.7M

Select item 554782814.

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease

Li-Xi Li, Hai-Lin Dong, Bao-Guo Xiao, Zhi-Ying Wu

Chin Med J (Engl) 2017 Aug 5; 130(15): 1779–1784. doi: 10.4103/0366-6999.211539

PMCID:: PMC5547828

Abstract Article PDF–1.6M

Select item 506696815.

Afferent Visual Pathway Affection in Patients with PMP22 Deletion-Related Hereditary Neuropathy with Liability to Pressure Palsies

Alexander U. Brandt, Elena Meinert-Bohn, Jan Leo Rinnenthal, Hanna Zimmermann, Janine Mikolajczak, Timm Oberwahrenbrock, Sebastian Papazoglou, Caspar F. Pfüller, Johann Schinzel, Björn Tackenberg, Friedemann Paul, Katrin Hahn, Judith Bellmann-Strobl

PLoS One. 2016; 11(10): e0164617. Published online 2016 Oct 17. doi: 10.1371/journal.pone.0164617