PLP1, proteolipid protein 1, 5354

N. diseases: 160; N. variants: 43
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 Biomarker phenotype BEFREE Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of severe developmental delay, intellectual disability, and behavioral abnormalities. 31448840 2020
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 Biomarker disease BEFREE These results were confirmed by immunohistochemistry; both myelin (proteolipid protein, P = 0.03) and neurofilaments (SMI-312, P = 0.02) were lower in ALS. 31002412 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.010 Biomarker disease BEFREE The possible cross-talk between the PLP enzymes hSR and hCBS (human cystathionine β-synthase) is discussed, as the former produces D-serine and the latter produces H<sub>2</sub>S, both of which stimulate the NMDAR and both of which have been implicated in neuronal infarction pursuant to ischemic stroke. 30918891 2019
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.010 Biomarker group BEFREE Tau deposits were often associated with slight myelin disruption and the presence of small PLP1-immunoreactive globules and dots in the ipsilateral corpus callosum 6 months after inoculation of sarkosyl-insoluble fractions from every tauopathy. 31191295 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE Experimental studies on several microarray and RNA-Seq datasets demonstrate that the proposed SLDSF is more effective than several representative characteristic gene selection methods (e.g., RGNMF, GNMF, RPCA and PMD) for selecting cancer characteristic genes. 29844511 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.010 GeneticVariation disease BEFREE Further exploration of these roles has revealed a functional interaction of PipX with PipY, a pyridoxal-phosphate (PLP) protein involved in PLP homeostasis whose mutations in the human ortholog cause epilepsy. 30483512 2018
CUI: C0017638
Disease: Glioma
Glioma
0.010 Biomarker disease BEFREE In contrast to oligodendrocytes, MeCP2 does not bind to promoter region of MBP and PLP in C6 glioma suggest that MeCP2 differentially regulates the gene expression in different cell types. 29992497 2018
CUI: C0023281
Disease: Leishmaniasis
Leishmaniasis
0.010 Biomarker disease BEFREE Various other product (putrescine) based analogs and transition state or PLP (cofactor) based analogs are being synthesized against diseases such as Leishmaniasis, Malaria and others discussed in the article. 28971766 2018
CUI: C0024530
Disease: Malaria
Malaria
0.010 Biomarker disease BEFREE Various other product (putrescine) based analogs and transition state or PLP (cofactor) based analogs are being synthesized against diseases such as Leishmaniasis, Malaria and others discussed in the article. 28971766 2018
CUI: C0027796
Disease: Neuralgia
Neuralgia
0.010 Biomarker phenotype BEFREE Such an understanding will improve amputees' quality of life by blocking the mechanisms that trigger and/or maintain PLP and chronic neuropathic pain. 28921418 2018
CUI: C0040558
Disease: Toxoplasmosis
Toxoplasmosis
0.010 Biomarker disease BEFREE Immuno-efficacy of DNA vaccines encoding PLP1 and ROP18 against experimental Toxoplasma gondii infection in mice. 29626423 2018
CUI: C0221760
Disease: brain cyst
brain cyst
0.010 Biomarker disease BEFREE Moreover, the immunized mice exhibited longer survival times (44.7 ± 2.1 days for ROP18/PLP1 and 47.2 ± 2.9 days for ROP18/PLP1 + IL-18) and lower brain cyst burden (68.9% for ROP18/PLP1 and 72.4% for ROP18/PLP1 + IL-18) than control mice after T. gondii challenge. 29626423 2018
CUI: C0270733
Disease: Striatonigral Degeneration
Striatonigral Degeneration
0.010 Biomarker disease BEFREE In summary, transgenic PLP-α-syn mice show a distinctive oligodendroglial α-synucleinopathy that is associated with progressive striatonigral degeneration linked to abnormal neuroinflammatory response. 29298733 2018
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis
0.010 Biomarker disease BEFREE ALP = alkaline phosphatase; HPP = hypophosphatasia; PEA = phosphorethanolamine; PLP = pyridoxal-5-phosphate; PPi = inorganic pyrophosphate; TNSALP/TNAP = tissue-nonspecific alkaline phosphatase. 30289311 2018
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease
0.010 GeneticVariation phenotype BEFREE One-year response was determined using RECIST for CT and EORTC criteria for PET, coded as complete response (CR or CMR), partial response (PR or PMR), stable disease (SD or SMD) or progressive disease (PD or PMD). 30137228 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.010 GeneticVariation group BEFREE A review of PubMed publications was performed from the past 12 months that identified 16 new PMD genes and/or pathogenic variants, and recognition of expanded phenotypes for a wide variety of mitochondrial disease genes. 30199403 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE Experimental studies on several microarray and RNA-Seq datasets demonstrate that the proposed SLDSF is more effective than several representative characteristic gene selection methods (e.g., RGNMF, GNMF, RPCA and PMD) for selecting cancer characteristic genes. 29844511 2018
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD
0.010 GeneticVariation disease BEFREE One-year response was determined using RECIST for CT and EORTC criteria for PET, coded as complete response (CR or CMR), partial response (PR or PMR), stable disease (SD or SMD) or progressive disease (PD or PMD). 30137228 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE We further corroborated the structure of the corresponding gene causal networks using datasets generated from the brain of mice with ablation of key network drivers, such as UGT8, CNP and PLP1, which were identified from human AD brain data. 29110684 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 GeneticVariation group BEFREE In order to gain mechanistic insights into multiple sclerosis (MS) pathogenesis, we utilized a multi-dimensional approach to test the hypothesis that mutations in myelin proteins lead to immune activation and central nervous system autoimmunity in MS. Mass spectrometry-based proteomic analysis of human MS brain lesions revealed seven unique mutations of PLP1; a key myelin protein that is known to be destroyed in MS. 28191734 2017
CUI: C0009319
Disease: Colitis
Colitis
0.010 Biomarker disease BEFREE These results suggest that colitis promotes rapid enteric neurogenesis in adult mice and humans through differentiation of Sox2- and PLP1-expressing cells, which represent enteric glia and/or neural progenitors. 28566702 2017
CUI: C0025202
Disease: melanoma
melanoma
0.010 Biomarker disease BEFREE Confocal laser scanning microscopy indicated that the targeting molecule FA promotes PLP-<sup>131</sup>I uptake by melanoma B16F10 cells, which was further confirmed by the cell incorporation rate via <sup>131</sup>I activity detection as measured by a gamma counter. 28532129 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.010 Biomarker group BEFREE The proteolipid protein 1 gene (PLP1) is located on chromosome Xq22.2 and is related to X-linked recessive leukoencephalopathy (Pelizaeus-Merzbacher disease: PMD). 28328133 2017
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus
0.010 Biomarker disease BEFREE Pendular nystagmus (PN) has been reported in some subtypes of HSP caused by PLP1 (SPG2) or paraplegin (SPG7) mutation. 29246608 2017
CUI: C1112211
Disease: Hepatic Infection
Hepatic Infection
0.010 Biomarker disease BEFREE This study demonstrates that SPECT and perforin-like protein 1 (PLP1) are critical for transcellular migration by P. falciparum sporozoites and demonstrates the importance of cell traversal for liver infection by this human pathogen. 28355563 2017