Human Myelin protein P0 (MPZ) ELISA kit

1. The novel MPZ base-pair substitution in the family is associated with inherited distal demyelinating neuropathy and should be reclassified as pathogenic for Charcot-Marie-Tooth. PMID: 29465609
2. In this Chinese Han population six novel Charcot-Marie-Tooth disease-associated gene mutations of MPZ (c.440T>C) was discovered. PMID: 27862672
3. The obtained results depict that the protein with I30T mutation had variable structural conformation and dynamic behavior than native and mutant I30M of MPZ protein. PMID: 26135405
4. interaction with neurofascins impaired by mutations D6Y, D32G, and H52Y responsible for late onset forms of the human disease PMID: 26406915
5. Genotype of MPZ mutations and phenotype of Charcot Marie Tooth Disease are correlated. PMID: 26310628
6. 2 heterozygous missense mutations were identified among 38 Italian CMT2 patients. PMID: 24819634
7. P0 protein in serum may be an early effective biomarker for peripheral nerve neuropathy PMID: 24762602
8. As a result of the haplotype analysis, based on ten markers (seven SNPs, two microsatellites and an intronic polyA stretch), the founder effect hypothesis for this allele migration is suggestive. PMID: 25720167
9. This study demonistrated that The mutation c.419C>G of MPZ exhibited relatively late onset and slowly progressive CMT1 phenotype. PMID: 24028194
10. This study showed that mutation of MPZ in patient with Charcot-Marie-Tooth disease. PMID: 23743332
11. this mutation is especially important because it implicates the significance of the immunoglobulin-like structure of MPZ protein PMID: 22633464
12. MPZ-related neuropathy should be considered in the diagnostic work up of patients with painful axonal neuropathy PMID: 23279346
13. The p.Arg106Cys allele in MPZ causes late-onset predominantly axonal sensory and motor neuropathy. PMID: 22222859
14. report of 2 siblings who presented with early onset severe Charcot-Marie-Tooth disease; a novel heterozygous C to T base substitution at neucleotide position 199 (c.199C>T) was identified in exon 2 of MPZ resulting in substitution of arginine for cysteine at codon 67 (p.Arg67Cys) PMID: 23197742
15. Myelin protein zero is a key structural component of compact myelin, and over 100 mutations in this protein have been reported, which can give rise to neuropathies with either axonal, demyelinating, or other features encompassing a range of severity. PMID: 22704856
16. Patients with CMT1B caused by Ser63del MPZ have a classical CMT1 phenotype that is much less severe than that of patients with Arg98Cys MPZ PMID: 22734905
17. Thiss study demonistrated that two affected member of the same family with the same genotype had an 8-base pair deletion, c.160_167delTCCCGGGT in MPZ exon 2. PMID: 22622165
18. Myelin protein P0 is a major Aire-regulated peripheral nervous system antigen demonstrating defective tolerance to P0 in both Aire-deficient mice and humans. PMID: 22490868
19. L-MPZ, a novel isoform of myelin P0, is produced by stop codon readthrough. PMID: 22457349
20. The overall frequency of MPZ mutation was 0.58% in a Greek population of Charcot-Marie-Tooth type 1. PMID: 22243284
21. The new allelic variants of hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene are described. PMID: 22433810
22. This study expanded the spectrum of the MPZ mutations and revealed two disparate mechanisms of MPZ mutations associated with a typical Charcot Marie Tooth 1b phenotype PMID: 22018721
23. The crystal structure of the extracellular domain of human MPZ fused with maltose binding protein PMID: 21971831
24. MPZ plays an important role in a family with 6 affected members in 3 consecutive generations, presenting with motor and sensory demyelinating polyneuropathy. PMID: 22275255
25. Charcot-Marie-Tooth disease has been described in a large Norwegian family caused by a copy number variation in myelin protein zero. PMID: 21787890
26. The identified mutation in MPZ may be the underlying cause of Charcot-Marie-Tooth disease in this family. PMID: 21503568
27. we present here, for the first time, morphological data obtained in two sural nerve biopsies pointing to a hypomyelination-dysmyelination process in a family harboring the Pro132Leu mutation in the myelin protein zero gene PMID: 21107784
28. a rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo PMID: 21179557
29. five patients with four novel MPZ mutations were identified by molecular genetic testing PMID: 20556410
30. Cells expressing mutant P(0), as compared with those expressing wild-type P(0), demonstrated variable degrees of reduction in the cell adhesiveness PMID: 20461396
31. two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser PMID: 20621479
32. Phenotypes associated with each of the new mutations include severe hereditary motor and sensory neuropathy type III, and mild phenotype CMT1B presented with only decreased or absent reflexes, foot deformities and mild or absent lower limb atrophies PMID: 20456450
33. A novel frameshift mutation affecting the transmembrane domain (Leu144fs)in a patient with Charcot-Marie-Tooth disease presenting as with late-onset, remitting neurologic symptoms. PMID: 20516806
34. Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene. PMID: 20544920
35. The results of this study concluded that ARG98HIS MPZ mutation may cause hereditary and relatively mild and asymmetric demyelinating sensorimotor polyneuropathy PMID: 20215982
36. The index patient of this family with unusual Charcot-Marie-Tooth phenotype is found to have a missense mutation within the intracellular domain of myelin protein zero. PMID: 19882637
37. mutations in MPZ may have a role in Charcot-Marie-Tooth disease type 1B [case report] PMID: 19475438
38. Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. This report adds new data concerning the clinical presentations of MPZ mutations. PMID: 19906531
39. novel mutation in vocal cord paralysis PMID: 19950375
40. Findings suggest that the clinical features associated with MPZ mutations depend partly on the nature of amino acid change. PMID: 19293842
41. Data show that the CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds. PMID: 19259128
42. SSCP analysis for this gene in Croatian patients PMID: 12211648
43. We suggest that axonal and demyelinating forms of CMT are not two distinct classes, but rather parts of a spectrum of genotypically related conditions, particularly with some MPZ mutations PMID: 12911457
44. DNA sequencing analysis shows the Asn131Lys mutation in the myelin protein zero gene in three members of an affected family. PMID: 12940837
45. This study demonstrates that autonomic disturbances may be one of the major clinical signs associated with CMT secondary to MPZ gene mutation in codon 124(thr124met mutation). PMID: 12948789
46. A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. PMID: 15036333
47. Four missense mutations and one 4-base pair (bp) deletion, respectively, were identified in five patients, of which one mutation, c.173 T>A, has never been previously reported PMID: 15050444
48. MPZ gene screening should be performed for wide phenotype spectrum of Charcot-Marie-Tooth disease. PMID: 15094849
49. Chronic cough was associated with a Thr124 Met mutation. MPZ must be critical for maintenance of axonal function in addition to its role in myelin. All MPZ mutations associated with tonic pupils affect the same region of the extracellular domain. PMID: 15159512
50. A novel Thr124Lys mutation in the MPZ gene is associated with congenital neuropathy with hypomyelination. PMID: 15184631

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HGNC: 7225

OMIM: 103100

KEGG: hsa:4359

STRING: 9606.ENSP00000431538

UniGene: Hs.591486