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Select item 109168661.

Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma

Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn

Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255

PMCID:: PMC10916866

Abstract Article PDF–4.7M

Select item 107112632.

Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

Juliane Bremer, Axel Meinhardt, Istvan Katona, Jan Senderek, Elke K. Kämmerer‐Gassler, Andreas Roos, Andreas Ferbert, J. Michael Schröder, Stefan Nikolin, Kay Nolte, Bernd Sellhaus, Klimentina Popzhelyazkova, Frank Tacke, Ulrike Schara‐Schmidt, Eva Neuen‐Jacob, Chantal Ceuterick de Groote, Peter de Jonghe, Vincent Timmerman, Jonathan Baets, Joachim Weis

Brain Pathol. 2024 Jan; 34(1): e13200. Published online 2023 Aug 15. doi: 10.1111/bpa.13200

PMCID:: PMC10711263

Abstract Article PDF–3.8M

Select item 102984623.

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy

Olga Shchagina, Mariya Orlova, Aisylu Murtazina, Alexandra Filatova, Mikhail Skoblov, Elena Dadali

Int J Mol Sci. 2023 Jun; 24(12): 9786. Published online 2023 Jun 6. doi: 10.3390/ijms24129786

PMCID:: PMC10298462

Abstract Article PDF–967K

Select item 99771454.

Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study

Vera Fridman, Stefan Sillau, Jacob Bockhorst, Kaitlin Smith, Isabella Moroni, Emanuela Pagliano, Chiara Pisciotta, Guiseppe Piscosquito, Matilde Laurá, Francesco Muntoni, Chelsea Bacon, Shawna Feely, Tiffany Grider, Laurie Gutmann, Rosemary Shy, Janel Wilcox, David N. Herrmann, Jun Li, Sindhu Ramchandren, Charlotte J. Sumner, Thomas E. Lloyd, John Day, Carly E. Siskind, Sabrina W. Yum, Reza Sadjadi, Richard S. Finkel, Steven S. Scherer, Davide Pareyson, Mary M Reilly, Michael E. Shy, Inherited Neuropathies Consortium-Rare Diseases Clinical Research Network (INC-RDCRN).

Ann Neurol. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Ann Neurol. 2023 Mar; 93(3): 563–576. Published online 2022 Oct 28. doi: 10.1002/ana.26518

PMCID:: PMC9977145

Abstract Article PDF–1.2M

Select item 98063815.

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

Anastasiya Aleksandrovna Kozina, Natalia Vladimirovna Baryshnikova, Anna Yurievna Ilinskaya, Anna Alexandrovna Kim, Nikolay Alekseevich Plotnikov, Nadezhda Andreevna Pogodina, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky

J Int Med Res. 2022 Dec; 50(12): 03000605221139718. Published online 2022 Dec 25. doi: 10.1177/03000605221139718

PMCID:: PMC9806381

Abstract Article PDF–536K

Select item 90009466.

MPZ gene variant site in Chinese patients with Charcot–Marie–Tooth disease

Xiaoyan Hao, Chong Li, Yunguo Lv, Tongtong Zhou, Hao Tian, Yaru Ma, Jiangwei Ding, Xinxiao Li, Yangyang Wang, Lei Wang, Ping Yang

Mol Genet Genomic Med. 2022 Apr; 10(4): e1890. Published online 2022 Feb 17. doi: 10.1002/mgg3.1890

PMCID:: PMC9000946

Abstract Article PDF–1.0M

Select item 81999107.

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 78983668.

Genetic spectrum of Charcot–Marie–Tooth disease associated with myelin protein zero gene variants in Japan

Takaki Taniguchi, Masahiro Ando, Yuji Okamoto, Akiko Yoshimura, Yujiro Higuchi, Akihiro Hashiguchi, Kensuke Shiga, Arisa Hayashida, Taku Hatano, Hiroyuki Ishiura, Jun Mitsui, Nobutaka Hattori, Toshiki Mizuno, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima

Clin Genet. 2021 Mar; 99(3): 359–375. Published online 2020 Nov 27. doi: 10.1111/cge.13881

PMCID:: PMC7898366

Abstract Article PDF–2.7M

Select item 67822409.

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 655552610.

Arne Raasakka, Salla Ruskamo, Robert Barker, Oda C. Krokengen, Guro H. Vatne, Cecilie K. Kristiansen, Erik I. Hallin, Maximilian W. A. Skoda, Ulrich Bergmann, Hanna Wacklin-Knecht, Nykola C. Jones, Søren V. Hoffmann, Petri Kursula

PLoS One. 2019; 14(6): e0216833. Published online 2019 Jun 7. doi: 10.1371/journal.pone.0216833

PMCID:: PMC6555526

Abstract Article PDF–3.4M

Select item 642109311.

Histopathology of the inner ear in Charcot-Marie-Tooth Syndrome caused by a missense variant (p.Thr65Ala) in the MPZ gene

Joseph B. Nadol, Jr., E. Tessa Hedley-Whyte, Sami Samir Amr, Jennifer T. O’Malley, Takefumi Kamakura

Audiol Neurootol. Author manuscript; available in PMC 2020 Jan 24.

Published in final edited form as: Audiol Neurootol. 2018; 23(6): 326–334. Published online 2019 Jan 24. doi: 10.1159/000495176

PMCID:: PMC6421093

Abstract Article PDF–7.2M

Select item 638658812.

The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2

Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari

Mol Cell. Author manuscript; available in PMC 2020 Feb 21.

Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001

PMCID:: PMC6386588

Abstract Article PDF–1.7M

Select item 634580813.

Molecular structure and function of myelin protein P0 in membrane stacking

Arne Raasakka, Salla Ruskamo, Julia Kowal, Huijong Han, Anne Baumann, Matti Myllykoski, Anna Fasano, Rocco Rossano, Paolo Riccio, Jochen Bürck, Anne S. Ulrich, Henning Stahlberg, Petri Kursula

Sci Rep. 2019; 9: 642. Published online 2019 Jan 24. doi: 10.1038/s41598-018-37009-4

PMCID:: PMC6345808

Abstract Article PDF–6.5M

Select item 607772214.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Abstract Article PDF–2.4M

Select item 464364115.

Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene

Oranee Sanmaneechai, Shawna Feely, Steven S. Scherer, David N. Herrmann, Joshua Burns, Francesco Muntoni, Jun Li, Carly E. Siskind, John W. Day, Matilde Laura, Charlotte J. Sumner, Thomas E. Lloyd, Sindhu Ramchandren, Rosemary R. Shy, Tiffany Grider, Chelsea Bacon, Richard S. Finkel, Sabrina W. Yum, Isabella Moroni, Giuseppe Piscosquito, Davide Pareyson, Mary M. Reilly, Michael E. Shy

Brain. 2015 Nov; 138(11): 3180–3192. Published online 2015 Aug 26. doi: 10.1093/brain/awv241

PMCID:: PMC4643641

Abstract Article PDF–863K

Select item 458345716.

HDAC1/2-Dependent P0 Expression Maintains Paranodal and Nodal Integrity Independently of Myelin Stability through Interactions with Neurofascins

Valérie Brügger, Stefanie Engler, Jorge A. Pereira, Sophie Ruff, Michael Horn, Hans Welzl, Emmanuelle Münger, Adrien Vaquié, Páris N. M. Sidiropoulos, Boris Egger, Peter Yotovski, Luis Filgueira, Christian Somandin, Tessa C. Lühmann, Maurizio D’Antonio, Teppei Yamaguchi, Patrick Matthias, Ueli Suter, Claire Jacob

PLoS Biol. 2015 Sep; 13(9): e1002258. Published online 2015 Sep 25. doi: 10.1371/journal.pbio.1002258

PMCID:: PMC4583457

Abstract Article PDF–22M

Select item 373174517.

CASE REPORT: Phenotypic presentation of the Ser63Del MPZ mutation

Lindsey J. Miller, Agnes Patzko, Richard A. Lewis, Michael E. Shy

J Peripher Nerv Syst. Author manuscript; available in PMC 2013 Aug 2.

Published in final edited form as: J Peripher Nerv Syst. 2012 Jun; 17(2): 197–200. doi: 10.1111/j.1529-8027.2012.00398.x

PMCID:: PMC3731745

Abstract Article PDF–283K

Select item 357963418.

Defective Aire-Dependent Central Tolerance to P0 Is Linked to Autoimmune Peripheral Neuropathy

Maureen A. Su, Dan Davini, Philip Cheng, Karen Giang, Una Fan, Jason J. DeVoss, Kellsey P.A. Johannes, Lorelei Taylor, Anthony K. Shum, Mariella Valenzise, Antonella Meloni, Helene Bour-Jordan, Mark S. Anderson

J Immunol. Author manuscript; available in PMC 2013 May 15.

Published in final edited form as: J Immunol. 2012 May 15; 188(10): 4906–4912. Published online 2012 Apr 6. doi: 10.4049/jimmunol.1200493