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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.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
AbstractArticlePDF–621K
12.
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
AbstractArticle
13.
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
AbstractArticlePDF–2.7M
14.
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
AbstractArticlePDF–1.6M
15.
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
PMCID:
PMC5066968
AbstractArticlePDF–2.1M
16.
Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy
Alexandra N. Scurry, Dante J. Heredia, Cheng-Yuan Feng, Gregory B. Gephart, Grant W. Hennig, Thomas W. Gould
J Neuropathol Exp Neurol. 2016 Apr; 75(4): 334–346. Published online 2016 Feb 25. doi: 10.1093/jnen/nlw004
PMCID:
PMC4845671
AbstractArticlePDF–1.3M
17.
Conformational Stability and Pathogenic Misfolding of the Integral Membrane Protein PMP22
Jonathan P. Schlebach, Malathi Narayan, Catherine Alford, Kathleen F. Mittendorf, Bruce D. Carter, Jun Li, Charles R. Sanders
J Am Chem Soc. 2015 Jul 15; 137(27): 8758–8768. Published online 2015 Jun 23. doi: 10.1021/jacs.5b03743
PMCID:
PMC4507940
AbstractArticlePDF–2.5M
18.
The Functional Role of PMP22 Gene in the Proliferation and Invasion of Osteosarcoma
Shuyong Liu, Zhiping Chen
Med Sci Monit. 2015; 21: 1976–1982. Published online 2015 Jul 8. doi: 10.12659/MSM.893430
PMCID:
PMC4501650
AbstractArticlePDF–877K
19.
Detection of copy number variation by SNP-allelotyping
Brett Parker, Ryan Alexander, Xingyao Wu, Shawna Feely, Michael Shy, Nathalie Schnetz-Boutaud, Jun Li
J Neurogenet. Author manuscript; available in PMC 2015 Mar 2.
Published in final edited form as: J Neurogenet. 2015 Mar; 29(1): 4–7. Published online 2014 Jun 2. doi: 10.3109/01677063.2014.923884
PMCID:
PMC4254366
AbstractArticlePDF–246K
20.
The Homology Model of PMP22 Suggests Mutations Resulting in Peripheral Neuropathy Disrupt Transmembrane Helix Packing
Kathleen F. Mittendorf, Brett M. Kroncke, Jens Meiler, Charles R. Sanders
Biochemistry. 2014 Oct 7; 53(39): 6139–6141. Published online 2014 Sep 22. doi: 10.1021/bi500809t
PMCID:
PMC4188248
AbstractArticlePDF–2.3M

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