| Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2. | Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.
Zhou X, Wang Y, He R, Liu Z, Xu Q, Guo J, Yan X, Li J, Tang B, Zeng S, Sun Q., Free PMC Article | 09/19/2023 |
| PLP1 gene mutations cause spastic paraplegia type 2 in three families. | PLP1 gene mutations cause spastic paraplegia type 2 in three families.
Yao L, Zhu Z, Zhang C, Tian W, Cao L., Free PMC Article | 03/17/2023 |
| Identifying oligodendrocyte enhancers governing Plp1 expression. | Identifying oligodendrocyte enhancers governing Plp1 expression.
Kim D, An H, Fan C, Park Y., Free PMC Article | 04/2/2022 |
| Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease. | Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.
Duan R, Li L, Yan H, He M, Gao K, Xing S, Ji H, Wang J, Cao B, Li D, Xie H, Zhao S, Wu Y, Jiang Y, Xiao J, Gu Q, Li M, Zheng X, Chen L, Wang J. | 01/22/2022 |
| Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types. | Correlation Between Anti-Myelin Proteolipid Protein (PLP) Antibodies and Disease Severity in Multiple Sclerosis Patients With PLP Response-Permissive HLA Types.
Greer JM, Trifilieff E, Pender MP., Free PMC Article | 04/24/2021 |
| These findings support the assumption that genetic variation in PLP1 affects white matter myelination in the healthy human brain. | Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1.
Ocklenburg S, Anderson C, Gerding WM, Fraenz C, Schlüter C, Friedrich P, Raane M, Mädler B, Schlaffke L, Arning L, Epplen JT, Güntürkün O, Beste C, Genç E. | 08/31/2019 |
| demonstrate for the first time that the wmN1 enhancer region: (1) is functional in hPLP1 | The wmN1 enhancer region in intron 1 is required for expression of human PLP1.
Hamdan H, Patyal P, Kockara NT, Wight PA., Free PMC Article | 07/20/2019 |
| PLP1 mutation is associated with hereditary spastic paraplegia. | Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
Hebbar M, Shukla A, Nampoothiri S, Bielas S, Girisha KM., Free PMC Article | 03/23/2019 |
| Findings suggest that PLP1 and CNTN1 gene variations modulate specific aspects of callosal microstructure that are in line with their gene function. | PLP1 and CNTN1 gene variation modulates the microstructure of human white matter in the corpus callosum.
Anderson C, Gerding WM, Fraenz C, Schlüter C, Friedrich P, Raane M, Arning L, Epplen JT, Güntürkün O, Beste C, Genç E, Ocklenburg S. | 01/26/2019 |
| 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. | PLP1 Gene Variation Modulates Leftward and Rightward Functional Hemispheric Asymmetries.
Ocklenburg S, Gerding WM, Raane M, Arning L, Genç E, Epplen JT, Güntürkün O, Beste C. | 12/22/2018 |
| This study demonstrated that the plp and alpha-synuclein transgenic mouse model of multiple system atrophy showed the Progressive striatonigral degeneration. | Progressive striatonigral degeneration in a transgenic mouse model of multiple system atrophy: translational implications for interventional therapies.
Refolo V, Bez F, Polissidis A, Kuzdas-Wood D, Sturm E, Kamaratou M, Poewe W, Stefanis L, Angela Cenci M, Romero-Ramos M, Wenning GK, Stefanova N., Free PMC Article | 08/25/2018 |
| Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. | Neurogenetics of Pelizaeus-Merzbacher disease.
Osório MJ, Goldman SA., Free PMC Article | 08/11/2018 |
| Proteolipid protein 1 and contactin 1 gene variation modulates interhemispheric integration | Myelin Genes and the Corpus Callosum: Proteolipid Protein 1 (PLP1) and Contactin 1 (CNTN1) Gene Variation Modulates Interhemispheric Integration.
Ocklenburg S, Gerding WM, Arning L, Genç E, Epplen JT, Güntürkün O, Beste C. | 07/28/2018 |
| 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. | Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
Lyahyai J, Ouled Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A., Free PMC Article | 07/21/2018 |
| down-regulated in cord blood by prenatal smoking | Evidence of altered brain regulatory gene expression in tobacco-exposed fetuses.
Salihu HM, Paothong A, Das R, King LM, Pradhan A, Riggs B, Naik E, Siegel EM, Whiteman VE. | 07/21/2018 |
| Authors 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. | Pathogenic inflammation in the CNS of mice carrying human PLP1 mutations.
Groh J, Friedman HC, Orel N, Ip CW, Fischer S, Spahn I, Schäffner E, Hörner M, Stadler D, Buttmann M, Varallyay C, Solymosi L, Sendtner M, Peterson AC, Martini R. | 02/3/2018 |
| 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. | Effects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders.
Wight PA., Free PMC Article | 12/9/2017 |
| 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. | Association of New Putative Epitopes of Myelin Proteolipid Protein (58-74) with Pathogenesis of Multiple Sclerosis.
Zamanzadeh Z, Ahangari G, Ataei M, Pouragahi S, Nabavi SM, Sadeghi M, Sanati MH. | 06/24/2017 |
| 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. | Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.
Nevin ZS, Factor DC, Karl RT, Douvaras P, Laukka J, Windrem MS, Goldman SA, Fossati V, Hobson GM, Tesar PJ., Free PMC Article | 04/29/2017 |
| 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 | A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
Pavlidou E, Ramachandran V, Govender V, Wilson C, Das R, Vlachou V, Pavlou E, Saggar A, Mankad K, Kinali M. | 04/1/2017 |
| 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. | Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.
Xie H, Feng H, Ji J, Wu Y, Kou L, Li D, Ji H, Wu X, Niu Z, Wang J, Jiang Y. | 06/4/2016 |
| In major depressive disorder there was a significantly reduced expression of PLP1 mRNA. | Oligodendrocyte morphometry and expression of myelin - Related mRNA in ventral prefrontal white matter in major depressive disorder.
Rajkowska G, Mahajan G, Maciag D, Sathyanesan M, Iyo AH, Moulana M, Kyle PB, Woolverton WL, Miguel-Hidalgo JJ, Stockmeier CA, Newton SS., Free PMC Article | 01/30/2016 |
| 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. | Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR., Free PMC Article | 12/19/2015 |
| Myelin proteolipid protein is critical to regulating oligodendrocyte progenitor cell migration. | Myelin Proteolipid Protein Complexes with αv Integrin and AMPA Receptors In Vivo and Regulates AMPA-Dependent Oligodendrocyte Progenitor Cell Migration through the Modulation of Cell-Surface GluR2 Expression.
Harlow DE, Saul KE, Komuro H, Macklin WB., Free PMC Article | 11/28/2015 |
| PLP1 splicing mutations may result in a wide variety of disease phenotypes through a combination of multiple molecular pathogenic mechanisms. | Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
Laššuthová P, Žaliová M, Inoue K, Haberlová J, Sixtová K, Sakmaryová I, Paděrová K, Mazanec R, Zámečník J, Šišková D, Garbern J, Seeman P. | 11/7/2015 |