Recombinant Human Peripheral myelin protein 22 (PMP22)

1. This study supported the notion that missense mutations in PMP22 give rise to a Charcot-Marie-Tooth Disease phenotype, possibly through a toxic gain-of-function mechanism. PMID: 28748849
2. We identified that PMP22 not only acts as a marker for gastric CSCs but may also have an essential role in regulating the self-renewal and chemoresistance of gastric cancer. Our findings suggest that PMP22 has clinical value for the prognosis and treatment of chemoresistant gastric cancer PMID: 28336807
3. In this Chinese Han population, the frequency of PMP22 gene duplication in those with CMT1 was slightly (50% vs. 70%-80%) less than in Western/Caucasian populations. PMID: 27862672
4. PMP22 polymorphism is associated with tuberculosis. PMID: 27623071
5. The studies implicating GAS3 protein family (EMP1, EMP2, EMP3 and PMP22) in cancer pathogenesis as well as probe the structural similarities between the family members were highlighted. PMID: 27279240
6. A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22. PMID: 28374912
7. Exome sequencing identified MFN2 SNVs in two of the individuals. Neuropathy-associated CNV outside of the PMP22 locus is rare in Charcot-Marie-Tooth (CMT) disease . Nevertheless, there is potential clinical utility in testing for CNVs and exome sequencing in CMT cases negative for the CMT1A duplication. PMID: 26378787
8. 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 PMID: 27288457
9. This study demonstrated We show that blink reflex studies are reliable for identification of inherited demyelinating polyneuropathy (with pmp22 mutation) regardless of severity and can facilitate algorithmic decisions in genetic testing. PMID: 27422849
10. Findings suggest that miR-200bc/429 inhibit OS cells proliferation and invasion by targeting PMP22, and function as a tumor suppressor. PMID: 28234890
11. PMP22 deletion leads to functional, metabolic and macro-structural alterations in the afferent visual system of hereditary neuropathy with liability to pressure palsies patients. PMID: 27749933
12. we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22-RAI1 deletions. Systematic clinical studies revealed features consistent with SMS, including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities. PMID: 27386852
13. Data suggest that the father has carried the same duplication of the peripheral myelin protein 22 (PMP22) gene but with no detectable symptom may be due to irregular transmission pattern of the mutation. PMID: 27577214
14. our data suggest that an alteration of mRNA processing could be a pathogenic mechanism in CMT1A. PMID: 26486801
15. These results suggest that the severe congenital hypomyelinating neuropathy that characterizes Tr(J)mice results in structural and functional deficits of the developing Neuromuscular Junction. PMID: 26921370
16. Data (including data from studies using recombinant proteins that lack typical in-vivo post-translational modifications such as palmitoylation) suggest PMP22 exhibits little tendency to partition into liquid-ordered domains of unilamellar vesicles. PMID: 26859249
17. PMP22 gene knockdown inhibited progression of Chronic Myeloid Leukemia. PMID: 26629937
18. The common 17p deletion accounts for approximately 50% and PMP22 micromutations for approximately 2% of cases in a large consecutive cohort of Greek patients with suspected HNPP. PMID: 26110377
19. This finding provides compelling evidence that the effects of these mutations on the energetics of PMP22 folding lie at the heart of the molecular basis of Charcot-Marie-Tooth disease. PMID: 26102530
20. DNA diagnosis was performed in 5 families with hereditary neuropathy with liability to pressure palsies - the PMP22 deletion was found in 9 patients. PMID: 26977628
21. Osteosarcoma metastasis-related gene PMP22 participates in the proliferation, invasion, migration and colony formation of osteosarcoma cells possibly via the MAPK signal transduction pathway PMID: 26154129
22. PMP22 is a transmembrane glycoprotein component of myelin, important for myelin functioning. Mutation of PMP22 gene cause Charcot-Marie-Tooth Disease. PMID: 26076881
23. PMP22 Gene Duplication is associated with Charcot-Marie-Tooth disease type 1A. PMID: 26544804
24. The results of this study revealed distinct patterns of SNP allele frequency distribution, which reliably differentiated CMT1A patients from controls PMID: 24830919
25. Charcot-Marie-Tooth disease-related PMP22 is trapped in the endoplasmic reticulum by calnexin-dependent retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated endoplasmic reticulum-associated degradation system. PMID: 25385046
26. 2 of 38 CMT2 patients showed rearrangements in the PMP22 gene, which is commonly associated with CMT1 or HNPP phenotypes thus usually not tested in CMT2 patients. PMID: 24819634
27. The SNP array has wide coverage, high sensitivity, and high resolution and can be used as a screening tool to detect PMP22 dup/del as shown in this Chinese Han population. PMID: 25522693
28. Data suggest that several peripheral myelin protein 22 (PMP22) mutations known to result in neuropathy act by disrupting transmembrane helix packing interactions. PMID: 25243937
29. Duplication of PMP22 was detected in 79 of 157 Mexican Charcot-Marie-Tooth Type 1A disease patients. In Mexican patients CMT1A frequency was similar to other populations such as United States, Australia, Finland, Sweden and Spain. PMID: 25030070
30. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation PMID: 24646194
31. ascorbic acid does not impact on PMP22 transcriptional regulation and PMP22 is not a suitable biomarker for CMT1A PMID: 24812204
32. G3BP1 regulation of cell proliferation in breast cancer cells, may occur via a regulatory effect on PMP22 expression. PMID: 24321297
33. a novel MDA-7/IL-24-GAS3-beta1integrin-fibronectin signaling pathway that suppresses breast cancer growth, is reported. PMID: 23468528
34. This study demonistrated that PMP22 duplication was the most common genetic cause Charcot-Marie-Tooth disease. PMID: 23743332
35. Two Brazilian siblings with proptosis were found to have a point mutation in the PMP22 gene. PMID: 23689413
36. This review shows that alterations of PM22 levels by mutations of the PM22 gene are responsible for > 50% of all inherited peripheral neuropathies. PMID: 23224996
37. Wild type PMP22 possesses minimal conformational stability in micelles, which parallels its poor folding efficiency in the endoplasmic reticulum. PMID: 23639031
38. molecular genetic analysis of patients with Bell's palsy failed to demonstrate the presence of the PMP22 gene deletion on chromosome 17q11.2-12 PMID: 23635862
39. This study demonistrated that pmp22 gene duplication is the most frequent in patient with Charcot-Marie-Tooth disease in spain. PMID: 24078732
40. We describe a novel heterozygous p.Trp39Cys missense mutation in the extracellular domain of the peripheral myelin protein 22 (PMP22) associated with an early-onset demyelinating Charcot-Marie-Tooth type 1 E PMID: 23279344
41. altered PMP22 gene expression induces significant central nervous system alterations in patients with hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth 1A PMID: 23243264
42. A subset of EGR2 and SOX10 consensus sequences are essential for enhancer activity of the PMP22 gene. PMID: 22180461
43. [review] Pes cavus is an early and age-dependent manifestation of CMT1A duplication. PMID: 21590514
44. our results suggest a low relative CMT1A duplication frequency in the Greek population PMID: 22243284
45. The lower prevalence of HNPP in our study of Finnish conscripts compared to the general population is probably due to pre-service screening. PMID: 21429232
46. PMP22 mutation has a role in Charcot-Marie-Tooth disease; the spectrum and frequency of PMP22 mutations in the Slovak population is comparable to that seen in the global population PMID: 22131320
47. gene causing Charcot-Marie-Tooth disease (CMT) in the family is found in the 17p11.2-p12 region containing PMP22 gene duplication mutation, resulting in the subtype CMT1A PMID: 22000434
48. Four novel point mutations in PMP22 with two different phenotypes: mutation p.Ser79Thr is found in the Dejerine-Sottas neuropathy phenotype. PMID: 22006697
49. Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease, the PMP22 Leu16Pro mutation profoundly disrupts the first transmembrane segment destabilizing the protein PMID: 21827951
50. More than three-fourths of the patients with Gly94fsX222 mutation demonstrated a CMT1 phenotype combined with transient deficits PMID: 21692910

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HGNC: 9118

OMIM: 118220

KEGG: hsa:5376

STRING: 9606.ENSP00000308937

UniGene: Hs.372031