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Items: 1 to 20 of 84

1.
Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model
Luis R. Cassinotti, Lingchao Ji, M. Caroline Yuk, Aditi S. Desai, Nathan D. Cass, Zahara A. Amir, Gabriel Corfas
JCI Insight. 2024 Oct 8; 9(19): e180315. Published online 2024 Oct 8. doi: 10.1172/jci.insight.180315
PMCID:
PMC11466197
AbstractArticlePDF–2.6M
2.
PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells
Robert Prior, Alessio Silva, Tim Vangansewinkel, Jakub Idkowiak, Arun Kumar Tharkeshwar, Tom P Hellings, Iliana Michailidou, Jeroen Vreijling, Maarten Loos, Bastijn Koopmans, Nina Vlek, Cedrick Agaser, Thomas B Kuipers, Christine Michiels, Elisabeth Rossaert, Stijn Verschoren, Wendy Vermeire, Vincent de Laat, Jonas Dehairs, Kristel Eggermont, Diede van den Biggelaar, Adekunle T Bademosi, Frederic A Meunier, Martin vandeVen, Philip Van Damme, Hailiang Mei, Johannes V Swinnen, Ivo Lambrichts, Frank Baas, Kees Fluiter, Esther Wolfs, Ludo Van Den Bosch
Brain. 2024 Sep; 147(9): 3113–3130. Published online 2024 May 14. doi: 10.1093/brain/awae158
PMCID:
PMC11370802
AbstractArticlePDF–2.2M
3.
Demyelination and Na+ Channel Redistribution Underlie Auditory and Vestibular Dysfunction in PMP22-Null Mice
Jeong Han Lee, Seojin Park, Maria C. Perez-Flores, Yingying Chen, Mincheol Kang, Jinsil Choi, Lauren Levine, Michael Anne Gratton, Jie Zhao, Lucia Notterpek, Ebenezer N. Yamoah
eNeuro. 2024 Feb; 11(2): ENEURO.0462-23.2023. Published online 2024 Feb 9. doi: 10.1523/ENEURO.0462-23.2023
PMCID:
PMC11059428
AbstractArticlePDF–10M
4.
In vitro myelination using explant culture of dorsal root ganglia: An efficient tool for analyzing peripheral nerve differentiation and disease modeling
Yurika Numata-Uematasu, Shuji Wakatsuki, Yuka Kobayashi-Ujiie, Kazuhisa Sakai, Noritaka Ichinohe, Toshiyuki Araki
PLoS One. 2023; 18(5): e0285897. Published online 2023 May 24. doi: 10.1371/journal.pone.0285897
PMCID:
PMC10208497
AbstractArticlePDF–1.9M
5.
Distinct Changes in Calpain and Calpastatin during PNS Myelination and Demyelination in Rodent Models
John A. Miller, Domenica E. Drouet, Leonid M. Yermakov, Mahmoud S. Elbasiouny, Fatima Z. Bensabeur, Michael Bottomley, Keiichiro Susuki
Int J Mol Sci. 2022 Dec; 23(23): 15443. Published online 2022 Dec 6. doi: 10.3390/ijms232315443
PMCID:
PMC9737575
AbstractArticlePDF–2.6M
6.
A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice
Marina Stavrou, Alexia Kagiava, Sarah G. Choudury, Matthew J. Jennings, Lindsay M. Wallace, Allison M. Fowler, Amanda Heslegrave, Jan Richter, Christina Tryfonos, Christina Christodoulou, Henrik Zetterberg, Rita Horvath, Scott Q. Harper, Kleopas A. Kleopa
J Clin Invest. 2022 Jul 1; 132(13): e159814. Published online 2022 Jul 1. doi: 10.1172/JCI159814
PMCID:
PMC9246392
AbstractArticlePDF–3.3M
7.
Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice
María Vittoria Di Tomaso, Lucía Vázquez Alberdi, Daniela Olsson, Saira Cancela, Anabel Fernández, Juan Carlos Rosillo, Ana Laura Reyes Ábalos, Magdalena Álvarez Zabaleta, Miguel Calero, Alejandra Kun
Biomolecules. 2022 Mar; 12(3): 456. Published online 2022 Mar 16. doi: 10.3390/biom12030456
PMCID:
PMC8946543
AbstractArticlePDF–2.1M
8.
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
9.
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development
Francesco Bedogni, Robert F. Hevner
Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034
PMCID:
PMC8313239
AbstractArticlePDF–1.6M
10.
Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests
Juan Pablo Damián, Lucia Vázquez Alberdi, Lucía Canclini, Gonzalo Rosso, Silvia Olivera Bravo, Mariana Martínez, Natalia Uriarte, Paul Ruiz, Miguel Calero, María Vittoria Di Tomaso, Alejandra Kun
Biomolecules. 2021 Apr; 11(4): 601. Published online 2021 Apr 19. doi: 10.3390/biom11040601
PMCID:
PMC8074002
AbstractArticlePDF–2.7M
11.
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
12.
Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice
Ji-Su Lee, Jae Y Lee, Dong W Song, Hee S Bae, Hyun M Doo, Ho S Yu, Kyu J Lee, Hee K Kim, Hyun Hwang, Geon Kwak, Daesik Kim, Seokjoong Kim, Young B Hong, Jung M Lee, Byung-Ok Choi
Nucleic Acids Res. 2020 Jan 10; 48(1): 130–140. Published online 2019 Nov 12. doi: 10.1093/nar/gkz1070
PMCID:
PMC7145652
AbstractArticlePDF–3.7M
13.
ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development
Nadjet Gacem, Anthula Kavo, Lisa Zerad, Laurence Richard, Stephane Mathis, Raj P. Kapur, Melanie Parisot, Jeanne Amiel, Sylvie Dufour, Pierre de la Grange, Veronique Pingault, Jean Michel Vallat, Nadege Bondurand
Nat Commun. 2020; 11: 198. Published online 2020 Jan 10. doi: 10.1038/s41467-019-14090-5
PMCID:
PMC6954203
AbstractArticlePDF–5.1M
14.
HNMP-1: A Novel Hematopoietic and Neural Membrane Protein Differentially Regulated in Neural Development and Injury
Laurel M. Bolin, Tom McNeil, Linda A. Lucian, Brigitte DeVaux, Karin Franz-Bacon, Daniel M. Gorman, Sandra Zurawski, Richard Murray, Terrill K. McClanahan
J Neurosci. 1997 Jul 15; 17(14): 5493–5502. doi: 10.1523/JNEUROSCI.17-14-05493.1997
PMCID:
PMC6793819
AbstractArticlePDF–1.2M
15.
Overloaded Endoplasmic Reticulum–Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22
Donatella D’Urso, Reinhard Prior, Regine Greiner–Petter, Anneke A. W. M. Gabreëls–Festen, Hans Werner Müller
J Neurosci. 1998 Jan 15; 18(2): 731–740. doi: 10.1523/JNEUROSCI.18-02-00731.1998
PMCID:
PMC6792531
AbstractArticlePDF–764K
16.
Transport of Trembler-J Mutant Peripheral Myelin Protein 22 Is Blocked in the Intermediate Compartment and Affects the Transport of the Wild-Type Protein by Direct Interaction
Andreas R. Tobler, Lucia Notterpek, Roland Naef, Verdon Taylor, Ueli Suter, Eric M. Shooter
J Neurosci. 1999 Mar 15; 19(6): 2027–2036. doi: 10.1523/JNEUROSCI.19-06-02027.1999
PMCID:
PMC6782545
AbstractArticlePDF–1.5M
17.
Emerging Role for Autophagy in the Removal of Aggresomes in Schwann Cells
Jenny Fortun, William A. Dunn, Jr, Shale Joy, Jie Li, Lucia Notterpek
J Neurosci. 2003 Nov 19; 23(33): 10672–10680. doi: 10.1523/JNEUROSCI.23-33-10672.2003
PMCID:
PMC6740927
AbstractArticlePDF–676K
18.
Altered Ion Channels in an Animal Model of Charcot-Marie-Tooth Disease Type IA
Jérôme J. Devaux, Steven S. Scherer
J Neurosci. 2005 Feb 9; 25(6): 1470–1480. doi: 10.1523/JNEUROSCI.3328-04.2005
PMCID:
PMC6726003
AbstractArticlePDF–734K
19.
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
20.
Follistatin-based ligand trap ACE-083 induces localized hypertrophy of skeletal muscle with functional improvement in models of neuromuscular disease
R. S. Pearsall, M. V. Davies, M. Cannell, J. Li, J. Widrick, A. W. Mulivor, S. Wallner, M. E. Troy, M. Spaits, K. Liharska, D. Sako, R. Castonguay, S. Keates, A. V. Grinberg, R. N. V. S. Suragani, R. Kumar
Sci Rep. 2019; 9: 11392. Published online 2019 Aug 6. doi: 10.1038/s41598-019-47818-w
PMCID:
PMC6684588
AbstractArticlePDF–3.1M

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