PLP1 Antibody

1. three single nucleotide polymorphisms in PLP1 that were associated with interhemispheric integration via the corpus callosum in a previous study also are relevant for functional hemispheric asymmetries. PMID: 29435918
2. This study demonstrated that the plp and alpha-synuclein transgenic mouse model of multiple system atrophy showed the Progressive striatonigral degeneration. PMID: 29298733
3. Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMID: 29478609
4. Proteolipid protein 1 and contactin 1 gene variation modulates interhemispheric integration PMID: 27864734
5. Using whole exome sequencing, a novel pathogenic PLP1 missense mutation c.251C > A (p.Ala84Asp) was detected in a Moroccan family, allowing a diagnosis of Pelizaeus-Merzbacher Disease. PMID: 29486744
6. down-regulated in cord blood by prenatal smoking PMID: 28130959
7. s investigated the disease progression in mouse models carrying PLP1 point mutations previously found in patients displaying clinical features of multiple sclerosis. These mouse models show loss-of-function of PLP1 associated with neuroinflammation. PMID: 28173160
8. Review focusing on sequences in hPLP1 intron 1 DNA deemed important for hPLP1 gene activity as well as a couple of "human-specific" supplementary exons within the first intron which are utilized to generate novel splice variants, and the potential role that these sequences may play in PLP1-linked disorders. PMID: 28735559
9. it seems that the epitopes of some microorganisms mimicking PLP such as PLP58-74 might have a potential role in the initiation of Multiple Sclerosis. PMID: 27917626
10. Human induced pluripotent stem cells-derived oligodendrocytes from 12 individuals with Pelizaeus-Merzbacher and identified individual and shared defects in PLP1 mRNA expression and splicing, oligodendrocyte progenitor development, and oligodendrocyte morphology and capacity for myelination. PMID: 28366443
11. report a novel mutation of the PLP1 gene in two siblings with Pelizaeus-Merzbacher disease associated with a rare and protean neuroimaging finding of optic nerve enlargement PMID: 27793435
12. Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease. We identified PLP1 mutations in seven male patients with PMD. PMID: 25491635
13. In major depressive disorder there was a significantly reduced expression of PLP1 mRNA. PMID: 25930075
14. Study investigated 17 unrelated Pelizaeus-Merzbacher disease subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals-16/17 were found to have a duplication-inverted triplication-duplication rearrangement product. PMID: 25749076
15. Myelin proteolipid protein is critical to regulating oligodendrocyte progenitor cell migration. PMID: 26311781
16. PLP1 splicing mutations may result in a wide variety of disease phenotypes through a combination of multiple molecular pathogenic mechanisms. PMID: 23771846
17. this study provides new insight into the genotype-phenotype correlations of patients with PLP1 splice-site mutations. PMID: 23711321
18. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease. PMID: 26329556
19. Data strongly suggest that a secondary structure within intron 3 is important for controlling regulation of the PLP1 alternative splice and that patient mutations can cause Pelizaeus-Merzbacher disease by disrupting this structure. PMID: 24890387
20. Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series. PMID: 23347225
21. Data suggest transmembrane segment of PLP contains multiple helix-helix interaction motifs that play role in ability of PLP to form dimers/oligomers; alteration of local hydrophobicity affects both helix-helix interaction and segment alpha-helicity. PMID: 24857611
22. show that the presence of the c.436C>G mutation served to introduce regulatory motifs that appear to be responsible for the perturbed splicing pattern that led to loss of the major PLP transcript PMID: 24019930
23. Our clinical and molecular findings showed that the phenotypic spectrum resulting from PLP1 mutations seems to be broader in patients with the PLP1 gene duplication compared to patients with both nonsense and missense mutation. PMID: 24519770
24. report a novel PLP1 missense mutation (c.88G>C) in a family from Argentina. This mutation is in a highly conserved transmembrane domain of PLP1 and the mutant protein was found to be retained in the endoplasmic reticulum when expressed in vitro PMID: 24103481
25. data show that complex duplications involving PLP1 are not uncommon, can be detected at the level of genome resolution afforded by clinical aCGH and duplication and inversion can be produced in the same event. PMID: 21623770
26. The PLP1 gene has a more complex role in human brain development, exceeding its structural function in myelin formation. PMID: 22511562
27. PLP1 mutants inhibit Golgi apparatus to endoplasmic reticulum trafficking and have a role in pathogenesis of Pelizaeus-Merzbacher disease PMID: 23344956
28. In transfected cells, oligodendrocytes & brain, PLP exists as a monomer or a disulfide-linked dimer via Cys108. Isoform DM20 is usually a monomer. Mutants causing Pelizaeus-Merzbacher disease form disulfide-linked, high-MW aggregates. PMID: 22902553
29. the underlying effect of the partial PLP1 duplication identified in this study was different from other PLP1 alterations including a typical duplication and a missense mutation. PMID: 22695888
30. expression of PLP1 in oligodendrocytes markedly inhibits their differentiation, and that this inhibitory effect is effectively improved by inhibition of extracellular signal-regulated kinase activity. PMID: 22750001
31. A novel PLP1 mutation was found in a family presenting with X-linked recessive Hereditary Spastic Paraplegia. PMID: 22343157
32. Inflammation in mammals with increased Plp1 gene dosage may also contribute to axonal degeneration described in patients and transgenic rodents with PLP1 increased gene dosage. PMID: 20885931
33. Data suggest that a defective disulfide bond in proteolipid protein 1 could be important in the pathogenesis of Pelizaeus-Merzbacher disease. PMID: 21177054
34. study of patients with PLP1-related disorders; PLP1 gene duplications were identified in 24 of unrelated patients whereas a variety of intragenic PLP1 mutations were found in the remaining 14 patients; of the 14 different intragenic lesions, 11 were novel PMID: 21679407
35. Results prove for the first time the interaction of PLP and MAL2 in oligodendrocytic cells, supporting the transcytotic model of PLP transport previously suggested. PMID: 21573057
36. Central nervous system myelination is compromised by overexpression of proteolipid protein PLP/DM20 in a transgenic mouse model of Pelizaeus-Merzbacher disease. PMID: 20629189
37. G Run-mediated recognition of proteolipid protein and DM20 5' splice sites by U1 small nuclear RNA is regulated by context and proximity to the splice site. PMID: 21127064
38. A patient with Pelizaeus-Merzbacher disease has duplication of all 7 exons of the PLP1 gene. This duplication was inherited from the patient's mother, who is an unaffected carrier of the mutation. PMID: 21082496
39. PLP1 gene mutations cause hereditary spastic paraplegia. PMID: 19955111
40. These results suggest for the first time that PLP may have functions in humans not only in oligodendrocytes but also in neurons and could be implicated in axono-glial communication PMID: 20036320
41. his study presented new mutation and variable sizes of duplications in patient with Pelizaeus-Merzbacher disease. PMID: 19328639
42. report on a family of two young boys and their mother who share the same unusual 4-bp deletion of the PLP1 gene: c51_54 del TTCC, causing truncation of the PLP1 in exon 2. The brain MRI appearances in this unique deletion, using MR imaging, are described. PMID: 20186781
43. A242V PLP1 mutant, which causes severe Pelizaeus-Merzbacher disease, was more stable and accumulated at the endoplasmic-reticulum. PMID: 19825935
44. PLP1 deletions are likely caused by nonhomologous end joining PMID: 12297985
45. A PLP splicing abnormality is associated with an unusual presentation of PMD. PMID: 12325077
46. a study of the mutations in Pelizaeus Merzbacher disease. PMID: 12491939
47. Decreased expression of a number of myelin-related genes, including myelin basic protein (MBP), proteolipid protein (PLP), and myelin-associated oligodendrocyte basic protein (MOBP) was noted in nucleus accumbens of cocaine abusers PMID: 15009677
48. A Korean boy diagnosed with SPG2 caused by a mutation that results in a Pro215Leu substitution in the second extracellular domain. PMID: 15450775
49. Mutations are associated with Pelizaeus-Merzbacher disease and spastic paraplegia type 2. (review) PMID: 15627202
50. the genetic polymorphisms within PLP1 in male are likely to confer an increased susceptibility to schizophrenia in the Chinese population. PMID: 15694262

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HGNC: 9086

OMIM: 300401

KEGG: hsa:5354

STRING: 9606.ENSP00000305152

UniGene: Hs.1787