PMP22

Summary

Gene Symbol: PMP22
Description: peripheral myelin protein 22
Alias: CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110, peripheral myelin protein 22, growth arrest-specific protein 3, peripheral myelin protein 22 kDa
Species: human
Products:     PMP22

Top Publications

  1. Li J, Ghandour K, Radovanovic D, Radovanovic D, Shy R, Krajewski K, et al. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol. 2007;64:974-8 pubmed
    ..Whether any mutation within the coding region of the PMP22 gene ultimately causes HNPP by reducing the amount of peripheral myelin protein 22 (PMP22) expressed in myelin is also unknown.
  2. Snipes G, Suter U, Welcher A, Shooter E. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol. 1992;117:225-38 pubmed
    ..that is repressed after sciatic nerve crush injury and shows homology to both the growth arrest-specific mRNA, gas3 (Manfioletti, G., M. E. Ruaro, G. Del Sal, L. Philipson, and C. Schneider, 1990. Mol. Cell Biol...
  3. Valentijn L, Baas F, Wolterman R, Hoogendijk J, Van Den Bosch N, Zorn I, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992;2:288-91 pubmed
    ..investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A)...
  4. Hoogendijk J, Hensels G, Gabreëls Festen A, Gabreels F, Janssen E, De Jonghe P, et al. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet. 1992;339:1081-2 pubmed
    ..This finding has important implications for genetic counselling of isolated patients with HMSN I. ..
  5. Kohl B, Fischer S, Groh J, Wessig C, Martini R. MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-tooth 1A neuropathy. Am J Pathol. 2010;176:1390-9 pubmed publisher
    Charcot-Marie-Tooth 1A (CMT1A) neuropathy, the most common inherited peripheral neuropathy, is primarily caused by a gene duplication for the peripheral myelin protein-22 (PMP22)...
  6. Amici S, Dunn W, Murphy A, Adams N, Gale N, Valenzuela D, et al. Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina. J Neurosci. 2006;26:1179-89 pubmed
    b>Peripheral myelin protein 22 (PMP22) is a tetraspan membrane glycoprotein, the misexpression of which is associated with hereditary demyelinating neuropathies...
  7. Matsunami N, Smith B, Ballard L, Lensch M, Robertson M, Albertsen H, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992;1:176-9 pubmed
    Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2...
  8. Wilson H, Wilson S, Surprenant A, North R. Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus. J Biol Chem. 2002;277:34017-23 pubmed
    ..These findings suggest that the P2X(7) C-terminal domain associates with EMPs, and this interaction may mediate some aspects of the downstream signaling following P2X(7) receptor activation. ..
  9. Dickson K, Bergeron J, Shames I, Colby J, Nguyen D, Chevet E, et al. Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases. Proc Natl Acad Sci U S A. 2002;99:9852-7 pubmed
    ..Sequestration of CNX in intracellular myelin-like figures may be relevant to the autosomal dominant Charcot-Marie-Tooth-related neuropathies. ..
  10. Sacksteder K, Jones J, South S, Li X, Liu Y, Gould S. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J Cell Biol. 2000;148:931-44 pubmed
    ..This hypothesis is supported by the observation that the loss of PEX19 results in degradation of PMPs and/or mislocalization of PMPs to the mitochondrion. ..

Detail Information

Publications62

  1. Li J, Ghandour K, Radovanovic D, Radovanovic D, Shy R, Krajewski K, et al. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol. 2007;64:974-8 pubmed
    ..Whether any mutation within the coding region of the PMP22 gene ultimately causes HNPP by reducing the amount of peripheral myelin protein 22 (PMP22) expressed in myelin is also unknown.
  2. Snipes G, Suter U, Welcher A, Shooter E. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol. 1992;117:225-38 pubmed
    ..that is repressed after sciatic nerve crush injury and shows homology to both the growth arrest-specific mRNA, gas3 (Manfioletti, G., M. E. Ruaro, G. Del Sal, L. Philipson, and C. Schneider, 1990. Mol. Cell Biol...
  3. Valentijn L, Baas F, Wolterman R, Hoogendijk J, Van Den Bosch N, Zorn I, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992;2:288-91 pubmed
    ..investigated the peripheral myelin protein gene, PMP-22, in a family with Charcot-Marie-Tooth disease type 1A (CMT1A)...
  4. Hoogendijk J, Hensels G, Gabreëls Festen A, Gabreels F, Janssen E, De Jonghe P, et al. De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet. 1992;339:1081-2 pubmed
    ..This finding has important implications for genetic counselling of isolated patients with HMSN I. ..
  5. Kohl B, Fischer S, Groh J, Wessig C, Martini R. MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-tooth 1A neuropathy. Am J Pathol. 2010;176:1390-9 pubmed publisher
    Charcot-Marie-Tooth 1A (CMT1A) neuropathy, the most common inherited peripheral neuropathy, is primarily caused by a gene duplication for the peripheral myelin protein-22 (PMP22)...
  6. Amici S, Dunn W, Murphy A, Adams N, Gale N, Valenzuela D, et al. Peripheral myelin protein 22 is in complex with alpha6beta4 integrin, and its absence alters the Schwann cell basal lamina. J Neurosci. 2006;26:1179-89 pubmed
    b>Peripheral myelin protein 22 (PMP22) is a tetraspan membrane glycoprotein, the misexpression of which is associated with hereditary demyelinating neuropathies...
  7. Matsunami N, Smith B, Ballard L, Lensch M, Robertson M, Albertsen H, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992;1:176-9 pubmed
    Charcot-Marie-Tooth disease 1A (CMT1A) is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p11.2...
  8. Wilson H, Wilson S, Surprenant A, North R. Epithelial membrane proteins induce membrane blebbing and interact with the P2X7 receptor C terminus. J Biol Chem. 2002;277:34017-23 pubmed
    ..These findings suggest that the P2X(7) C-terminal domain associates with EMPs, and this interaction may mediate some aspects of the downstream signaling following P2X(7) receptor activation. ..
  9. Dickson K, Bergeron J, Shames I, Colby J, Nguyen D, Chevet E, et al. Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases. Proc Natl Acad Sci U S A. 2002;99:9852-7 pubmed
    ..Sequestration of CNX in intracellular myelin-like figures may be relevant to the autosomal dominant Charcot-Marie-Tooth-related neuropathies. ..
  10. Sacksteder K, Jones J, South S, Li X, Liu Y, Gould S. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. J Cell Biol. 2000;148:931-44 pubmed
    ..This hypothesis is supported by the observation that the loss of PEX19 results in degradation of PMPs and/or mislocalization of PMPs to the mitochondrion. ..
  11. Mersiyanova I, Ismailov S, Polyakov A, Dadali E, Fedotov V, Nelis E, et al. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat. 2000;15:340-7 pubmed
    ..The most common mutations are the 1.5 Mb CMT1A tandem duplication on chromosome 17p11.2-p12 in CMT1 patients and the reciprocal 1.5 Mb deletion in HNPP patients...
  12. Salmenkari H, Holappa M, Forsgård R, Korpela R, Vapaatalo H. Orally administered angiotensin-converting enzyme-inhibitors captopril and isoleucine-proline-proline have distinct effects on local renin-angiotensin system and corticosterone synthesis in dextran sulfate sodium-induced colitis in mice. J Physiol Pharmacol. 2017;68:355-362 pubmed
    ..Contrary to previous studies, captopril did not alleviate DSS-induced colitis...
  13. Zhang C, Zhang S, He W, Lu J, Xu Y, Yang J, et al. Baicalin may alleviate inflammatory infiltration in dextran sodium sulfate-induced chronic ulcerative colitis via inhibiting IL-33 expression. Life Sci. 2017;186:125-132 pubmed publisher
    ..UC model were established by giving three cycles of 5-day 2% dextran sodium sulfate (DSS) with two intervals of 14-day recovery in mice, totaling 43days...
  14. Afaloniati H, Karagiannis G, Hardas A, Poutahidis T, Angelopoulou K. Inflammation-driven colon neoplasmatogenesis in uPA-deficient mice is associated with an increased expression of Runx transcriptional regulators. Exp Cell Res. 2017;361:257-264 pubmed publisher
    ..intestinal neoplasmatogenesis, in which chronic colitis and CRC are induced using dextran sodium sulfate (DSS)...
  15. Adedara I, Ajayi B, Awogbindin I, Farombi E. Interactive effects of ethanol on ulcerative colitis and its associated testicular dysfunction in pubertal BALB/c mice. Alcohol. 2017;64:65-75 pubmed publisher
    ..Group II mice received ethanol alone at 5 g/kg body weight. Group III mice received 2.5% dextran sulphate sodium (DSS) in drinking water followed by normal drinking water...
  16. Deng J, Zeng L, Lai X, Li J, Liu L, Lin Q, et al. Metformin protects against intestinal barrier dysfunction via AMPKα1-dependent inhibition of JNK signalling activation. J Cell Mol Med. 2017;: pubmed publisher
    ..We showed that metformin alleviated dextran sodium sulphate (DSS)-induced decreases in transepithelial electrical resistance, FITC-dextran hyperpermeability, loss of the tight ..
  17. Jiang X, Huang X, Yang Z, Wang S, Xie W, Miao L, et al. Iguratimod ameliorates inflammatory responses by modulating the Th17/Treg paradigm in dextran sulphate sodium-induced murine colitis. Mol Immunol. 2017;93:9-19 pubmed publisher
    ..The aim of this study was to investigate whether iguratimod ameliorates dextran sulphate sodium (DSS)-induced murine colitis and its potential regulatory mechanism. Murine colitis was induced by administering 2...
  18. Pozos Ochoa L, Lino Silva L, León Takahashi A, Salcedo Hernández R. Prognosis of Signet Ring Cell Carcinoma of the Colon and Rectum and their Distinction of Mucinous Adenocarcinoma with Signet Ring Cells. A Comparative Study. Pathol Oncol Res. 2017;: pubmed publisher
    ..For the MAC with SRC and SRCC groups, the median disease-specific survival (DSS) was 46.1 months (95% CI 36.9-55.25) and 22.4 months (95% CI 5.1-39.7 [p = 0.039]), respectively...
  19. Nason G, Redmond E, Considine S, Omer S, Power D, Sweeney P. The natural history of Leydig cell testicular tumours: an analysis of the National Cancer Registry. Ir J Med Sci. 2017;: pubmed publisher
    ..Recurrence free survival (RFS) and disease-specific survival (DSS) were analysed. Between 1994 and 2013, 2755 new cases of testicular cancer were diagnosed in Ireland...
  20. Polgar O, Robey R, Morisaki K, Dean M, Michejda C, Sauna Z, et al. Mutational analysis of ABCG2: role of the GXXXG motif. Biochemistry. 2004;43:9448-56 pubmed
    ..impaired function, the mutants retained susceptibility to cross-linking using either disuccinimidyl suberate (DSS) or the reducible dithiobis(succinimidyl propionate) (DSP) and demonstrated a high molecular weight complex under ..
  21. Sabéran Djoneidi D, Sanguedolce V, Assouline Z, Levy N, Passage E, Fontes M. Molecular dissection of the Schwann cell specific promoter of the PMP22 gene. Gene. 2000;248:223-31 pubmed
    PMP22, one of the major components of myelin, is overexpressed in Charcot-Marie-Tooth type 1A (CMT1A) patients...
  22. Logroscino G, Del Tedesco F, Cambise C, Coraci D, Donati F, Santilli V, et al. Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability. Orthop Traumatol Surg Res. 2016;102:529-31 pubmed publisher
    ....
  23. Jones E, Brewer M, Srinivasan R, Krueger C, Sun G, Charney K, et al. Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22. Hum Mol Genet. 2012;21:1581-91 pubmed publisher
    ..Recently, duplications upstream of PMP22, but not containing the gene itself, were reported in patients with CMT1A like symptoms, suggesting that this region contains regulators of PMP22...
  24. Soundravally R, Hoti S. Immunopathogenesis of dengue hemorrhagic fever and shock syndrome: role of TAP and HPA gene polymorphism. Hum Immunol. 2007;68:973-9 pubmed publisher
    ..outcomes of dengue infection such as dengue fever (DF), dengue hemorrhagic fever (DHF), and dengue shock syndrome (DSS) could be attributed to host genetic factors...
  25. de Aguiar C, Castoldi A, Andrade Oliveira V, Ignacio A, da Cunha F, Felizardo R, et al. Mesenchymal stromal cells modulate gut inflammation in experimental colitis. Inflammopharmacology. 2017;: pubmed publisher
    ..In this study, we explored the immunomodulatory potential of ADMSC in a classical model of DSS-induced colitis...
  26. Oh S, Ok S, Jung T, Jeon S, Park J, Jung J, et al. Protective effect of decursin and decursinol angelate-rich Angelica gigas Nakai extract on dextran sulfate sodium-induced murine ulcerative colitis. Asian Pac J Trop Med. 2017;10:864-870 pubmed publisher
    To investigate the anti-inflammatory effects of decursin and decursinol angelate-rich Angelica gigas Nakai (AGNE) on dextran sulfate sodium (DSS)-induced murine ulcerative colitis (UC).
  27. Li R, Zhang Y, Polk D, Tomasula P, Yan F, Liu L. Preserving viability of Lactobacillus rhamnosus GG in vitro and in vivo by a new encapsulation system. J Control Release. 2016;230:79-87 pubmed publisher
    ..inflammation by LGG, mice were gavaged with LGG containing beads and treated with dextran sulphate sodium (DSS) to induce intestinal injury and colitis...
  28. Li C, Chen X, Shao X, Wei T, Wang P, Xie B, et al. Mechanistic Insight into Trimethylamine N-Oxide Recognition by the Marine Bacterium Ruegeria pomeroyi DSS-3. J Bacteriol. 2015;197:3378-87 pubmed publisher
    ..However, it was not known how TMAO is recognized and imported by bacteria. Ruegeria pomeroyi DSS-3, a marine Roseobacter, has an ATP-binding cassette transporter, TmoXWV, specific for TMAO...
  29. Higashiguchi T, Ito A, Nishiyama H, Shigematsu T, Ishikawa A, Kato H, et al. Appropriate nutritional management in patients with impaired mastication and those with mild dysphagia: a multicenter study of the usefulness of novel foods processed and softened by enzymes. Asia Pac J Clin Nutr. 2017;26:1007-1015 pubmed publisher
    ..0±11.0 years) with dysphagia due to Occasional aspiration (4 points on the Dysphagia Severity Scale [DSS]) or Oral problems (5 points) randomly assigned to the study diet (iEAT) or its opposite (the modified traditional [..
  30. Nairz M, Haschka D, Dichtl S, Sonnweber T, Schroll A, Aßhoff M, et al. Cibinetide dampens innate immune cell functions thus ameliorating the course of experimental colitis. Sci Rep. 2017;7:13012 pubmed publisher
    ..We used dextran sulphate sodium (DSS) to induce colitis in C57BL/6 N mice...
  31. Lai C, Yang G, Li S, Lee P, Wang B, Chung M, et al. 3'-Hydroxypterostilbene Suppresses Colitis-Associated Tumorigenesis by Inhibition of IL-6/STAT3 Signaling in Mice. J Agric Food Chem. 2017;65:9655-9664 pubmed publisher
    ..underlying molecular mechanisms on colitis-associated cancer using the azoxymethane (AOM)/dextran sodium sulfate (DSS) model...
  32. Wu Y, Yang W, Hu Y, Hsieh C, Yang K, Lai I, et al. Definitive Radiotherapy for Older Patients with Prostate Cancer: Experience of a Medical Center in Taiwan. Sci Rep. 2017;7:13880 pubmed publisher
    ..5-year biochemical failure-free survival(BFFS), distant metastasis-free survival(DMFS), disease-specific survival(DSS), and overall survival(OS) rates were 84.9%, 93.8%, 97.8%, and 86.6%, respectively, for all patients...