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Items: 1 to 20 of 40

1.
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
AbstractArticlePDF–4.7M
2.
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
AbstractArticlePDF–3.8M
3.
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease
Christopher P Ptak, Tabitha A Peterson, Jesse B Hopkins, Christopher A Ahern, Michael E Shy, Robert C Piper
Brain. 2023 Dec; 146(12): 5110–5123. Published online 2023 Aug 5. doi: 10.1093/brain/awad258
PMCID:
PMC10690024
AbstractArticlePDF–1.3M
4.
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
AbstractArticlePDF–967K
5.
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
AbstractArticlePDF–1.2M
6.
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
AbstractArticlePDF–536K
7.
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
AbstractArticlePDF–1.0M
8.
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
AbstractArticlePDF–1.1M
9.
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
AbstractArticlePDF–2.7M
10.
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
AbstractArticlePDF–845K
11.
Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail
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
AbstractArticlePDF–3.4M
12.
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
AbstractArticlePDF–7.2M
13.
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
AbstractArticlePDF–1.7M
14.
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
AbstractArticlePDF–6.5M
15.
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
AbstractArticlePDF–2.4M
16.
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
AbstractArticlePDF–863K
17.
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
AbstractArticlePDF–22M
18.
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
AbstractArticlePDF–283K
19.
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
PMCID:
PMC3579634
AbstractArticlePDF–1.4M
20.
Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain
Juan D. Ramirez, Phillip R.J. Barnes, Kerry R. Mills, David L.H. Bennett
Pain. 2012 Aug; 153(8): 1763–1768. doi: 10.1016/j.pain.2012.05.015
PMCID:
PMC3399778
AbstractArticlePDF–565K

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