| PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells. | PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells.
Prior R, Silva A, Vangansewinkel T, Idkowiak J, Tharkeshwar AK, Hellings TP, Michailidou I, Vreijling J, Loos M, Koopmans B, Vlek N, Agaser C, Kuipers TB, Michiels C, Rossaert E, Verschoren S, Vermeire W, de Laat V, Dehairs J, Eggermont K, van den Biggelaar D, Bademosi AT, Meunier FA, vandeVen M, Van Damme P, Mei H, Swinnen JV, Lambrichts I, Baas F, Fluiter K, Wolfs E, Van Den Bosch L., Free PMC Article | 09/13/2024 |
| Demyelination and Na[+] Channel Redistribution Underlie Auditory and Vestibular Dysfunction in PMP22-Null Mice. | Demyelination and Na(+) Channel Redistribution Underlie Auditory and Vestibular Dysfunction in PMP22-Null Mice.
Lee JH, Park S, Perez-Flores MC, Chen Y, Kang M, Choi J, Levine L, Gratton MA, Zhao J, Notterpek L, Yamoah EN., Free PMC Article | 02/23/2024 |
| A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. | A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice.
Stavrou M, Kagiava A, Choudury SG, Jennings MJ, Wallace LM, Fowler AM, Heslegrave A, Richter J, Tryfonos C, Christodoulou C, Zetterberg H, Horvath R, Harper SQ, Kleopa KA., Free PMC Article | 07/9/2022 |
| Role of peripheral myelin protein 22 in chronic exercise-induced interactions of muscle and bone in mice. | Role of peripheral myelin protein 22 in chronic exercise-induced interactions of muscle and bone in mice.
Kawaguchi M, Kawao N, Muratani M, Takafuji Y, Ishida M, Kinoshita Y, Takada Y, Mizukami Y, Ohira T, Kaji H. | 05/28/2022 |
| Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice. | Colocalization Analysis of Peripheral Myelin Protein-22 and Lamin-B1 in the Schwann Cell Nuclei of Wt and TrJ Mice.
Di Tomaso MV, Vázquez Alberdi L, Olsson D, Cancela S, Fernández A, Rosillo JC, Reyes Ábalos AL, Álvarez Zabaleta M, Calero M, Kun A., Free PMC Article | 05/7/2022 |
| Inhibition of protein PMP22 enhances etoposide-induced cell apoptosis by p53 signaling pathway in Gastric Cancer. | Inhibition of protein PMP22 enhances etoposide-induced cell apoptosis by p53 signaling pathway in Gastric Cancer.
Hou J, Wang L, Zhao J, Zhuo H, Cheng J, Chen X, Zheng W, Hong Z, Cai J., Free PMC Article | 03/19/2022 |
| Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests. | Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests.
Damián JP, Vázquez Alberdi L, Canclini L, Rosso G, Bravo SO, Martínez M, Uriarte N, Ruiz P, Calero M, Di Tomaso MV, Kun A., Free PMC Article | 09/25/2021 |
| Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves. | Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.
Pantera H, Hu B, Moiseev D, Dunham C, Rashid J, Moran JJ, Krentz K, Rubinstein CD, Won S, Li J, Svaren J., Free PMC Article | 08/14/2021 |
| Study shows that PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux. | PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.
Zhou Y, Miles JR, Tavori H, Lin M, Khoshbouei H, Borchelt DR, Bazick H, Landreth GE, Lee S, Fazio S, Notterpek L., Free PMC Article | 06/20/2020 |
| identification of a signaling pathway that involves RUNX1/3 and suppression of Pmp22 with a role in neurofibroma initiation and/or maintenance | RUNX represses Pmp22 to drive neurofibromagenesis.
Hall A, Choi K, Liu W, Rose J, Zhao C, Yu Y, Na Y, Cai Y, Coover RA, Lin Y, Dombi E, Kim M, Levanon D, Groner Y, Boscolo E, Pan D, Liu PP, Lu QR, Ratner N, Huang G, Wu J., Free PMC Article | 05/30/2020 |
| Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice. | Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice.
Lee JS, Lee JY, Song DW, Bae HS, Doo HM, Yu HS, Lee KJ, Kim HK, Hwang H, Kwak G, Kim D, Kim S, Hong YB, Lee JM, Choi BO., Free PMC Article | 03/21/2020 |
| The present results indicated that EV71 structural viral protein 1 (VP1) promoted mouse Schwann cell autophagy. Overexpression of VP1 upregulated PMP22. | Enterovirus 71 VP1 promotes mouse Schwann cell autophagy via ER stress‑mediated PMP22 upregulation.
Li P, Yang S, Hu D, Wei D, Lu J, Zheng H, Nie S, Liu G, Yang H. | 12/28/2019 |
| selective suppression of the Pmp22 mutant allele by non-viral delivery of siRNA alleviates the demyelinating neuropathic phenotypes of Charcot-Marie-Tooth disease in vivo | Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo.
Lee JS, Chang EH, Koo OJ, Jwa DH, Mo WM, Kwak G, Moon HW, Park HT, Hong YB, Choi BO. | 02/24/2018 |
| We discovered that Tead1 and co-activators Yap and Taz are required for Pmp22 expression, as well as for the expression of Egr2 Tead1 directly binds Pmp22 and Egr2 enhancers early in development and Tead1 binding is induced during myelination, correlating with Pmp22 expression. The data identify Tead1 as a novel regulator of Pmp22 expression during development in concert with Sox10 and Egr2 | Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.
Lopez-Anido C, Poitelon Y, Gopinath C, Moran JJ, Ma KH, Law WD, Antonellis A, Feltri ML, Svaren J., Free PMC Article | 07/22/2017 |
| The basal lamina and PMP22 act in concert to contribute to a resilience and integrity of peripheral nerves at the single fibre level. | Unravelling crucial biomechanical resilience of myelinated peripheral nerve fibres provided by the Schwann cell basal lamina and PMP22.
Rosso G, Liashkovich I, Gess B, Young P, Kun A, Shahin V., Free PMC Article | 10/10/2015 |
| A role was identified for PMP22 in the linkage of the actin cytoskeleton with the plasma membrane. | PMP22 is critical for actin-mediated cellular functions and for establishing lipid rafts.
Lee S, Amici S, Tavori H, Zeng WM, Freeland S, Fazio S, Notterpek L., Free PMC Article | 01/31/2015 |
| This study demonistrated that Paranodal dysmyelination in peripheral nerves of Trembler mice. | Paranodal dysmyelination in peripheral nerves of Trembler mice.
Rosenbluth J, Bobrowski-Khoury N. | 09/27/2014 |
| This study showed that a number of ongoing pathogenic mechanisms contribute to the progression of the neuropathy in C22 mice, which initiates with abnormal expression of PMP22. | Biochemical characterization of protein quality control mechanisms during disease progression in the C22 mouse model of CMT1A.
Chittoor VG, Sooyeon L, Rangaraju S, Nicks JR, Schmidt JT, Madorsky I, Narvaez DC, Notterpek L., Free PMC Article | 09/13/2014 |
| This study revealed a novel mechanism by which PMP22 deficiency affects nerve conduction not through removal of myelin, but through disruption of myelin junctions | Abnormal junctions and permeability of myelin in PMP22-deficient nerves.
Guo J, Wang L, Zhang Y, Wu J, Arpag S, Hu B, Imhof BA, Tian X, Carter BD, Suter U, Li J., Free PMC Article | 05/10/2014 |
| This study showed that mouse PMP22 is palmitoylated at C85 and mutating C85S abolishes PMP22 palmitoylation. | The palmitoylation state of PMP22 modulates epithelial cell morphology and migration.
Zoltewicz SJ, Lee S, Chittoor VG, Freeland SM, Rangaraju S, Zacharias DA, Notterpek L., Free PMC Article | 05/25/2013 |
| Peripheral myelin protein 22 (PMP22) performs distinct actions on the formation, maturation, degeneration and regeneration of sciatic nerve myelin sheath. | Age-related changes in myelin morphology, electrophysiological property and myelin-associated protein expression of mouse sciatic nerves.
Shen D, Zhang Q, Gao X, Gu X, Ding F. | 06/16/2012 |
| Egr2 and Sox10 activity are directly involved in mediating the developmental induction of Pmp22 expression through an intronic enhancer. | Regulation of the PMP22 gene through an intronic enhancer.
Jones EA, Lopez-Anido C, Srinivasan R, Krueger C, Chang LW, Nagarajan R, Svaren J., Free PMC Article | 06/18/2011 |
| The results of this study demonstrated that a function of Pmp22 is to protect the nerve from mechanical injury. | Conduction block in PMP22 deficiency.
Bai Y, Zhang X, Katona I, Saporta MA, Shy ME, O'Malley HA, Isom LL, Suter U, Li J., Free PMC Article | 02/8/2010 |
| Data show that Med25 is coordinately expressed with Pmp22 gene dosage and expression in transgenic mice and rats, and suggest a potential role of this protein in the molecular etiology of Charcot-Marie-Tooth disease. | Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models.
Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Sereda M, Stassart RM, Meyer zu Horste G, Nave KA, Reis A, Rautenstrauss B., Free PMC Article | 01/21/2010 |
| The beneficial effects of autophagy and chaperones in preventing the accumulation of misfolded PMP22 are additive and provide a potential avenue for therapeutic approaches in hereditary neuropathies linked to PMP22 mutations. | The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones.
Fortun J, Verrier JD, Go JC, Madorsky I, Dunn WA, Notterpek L., Free PMC Article | 01/21/2010 |