PLEK, pleckstrin, 5341

N. diseases: 83; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020097
Disease: HTLV-I Infections
HTLV-I Infections
0.010 Biomarker group BEFREE The mechanism of p47 degradation is primarily dependent on activation of lysosomal-autophagy and the autophagy is activated in most of the HTLV-infected and ATLL cells, suggesting that the p47 degradation may be a first key molecular event during HTLV-1 infection to T-cells as a connector of two important signaling pathways, NF-κB and autophagy. 30837480 2019
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia
0.010 AlteredExpression disease BEFREE The mechanism of p47 degradation is primarily dependent on activation of lysosomal-autophagy and the autophagy is activated in most of the HTLV-infected and ATLL cells, suggesting that the p47 degradation may be a first key molecular event during HTLV-1 infection to T-cells as a connector of two important signaling pathways, NF-κB and autophagy. 30837480 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 AlteredExpression disease BEFREE ASE reduced oxidative damage markers (TBARS, carbonyl levels and 8-isoprostane) in D and DH associated with a decrease in Nox 4 and p47 subunit expression and increase in antioxidant enzyme activity in both groups (SOD, catalase and GPx). 28105508 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 AlteredExpression group BEFREE ASE reduced oxidative damage markers (TBARS, carbonyl levels and 8-isoprostane) in D and DH associated with a decrease in Nox 4 and p47 subunit expression and increase in antioxidant enzyme activity in both groups (SOD, catalase and GPx). 28105508 2018
CUI: C0233794
Disease: Memory impairment
Memory impairment
0.010 Biomarker phenotype BEFREE Clozapine, LY294002, or p47 <sup>phox</sup> knockout significantly ameliorated social withdrawal and recognition memory deficits produced by phencyclidine. 30207504 2018
Squamous cell carcinoma of esophagus
0.010 AlteredExpression disease BEFREE MiR-141-3p is upregulated in esophageal squamous cell carcinoma and targets pleckstrin homology domain leucine-rich repeat protein phosphatase-2, a negative regulator of the PI3K/AKT pathway. 29738771 2018
Paroxysmal kinesigenic choreoathetosis
0.010 Biomarker disease BEFREE All 6 cases presented with typical paroxysmal kinesigenic dyskinesia characteristics, except for the Dishevelled, Egl-10, and Pleckstrin domain containing 5 family, where the proband's mother had abnormal discharges in her temporal lobes in addition to paroxysmal kinesigenic dyskinesia episodes. 29356177 2018
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1
0.010 Biomarker disease BEFREE All 6 cases presented with typical paroxysmal kinesigenic dyskinesia characteristics, except for the Dishevelled, Egl-10, and Pleckstrin domain containing 5 family, where the proband's mother had abnormal discharges in her temporal lobes in addition to paroxysmal kinesigenic dyskinesia episodes. 29356177 2018
CUI: C0008354
Disease: Cholera
Cholera
0.010 Biomarker disease BEFREE In mouse immunization experiments, intranasal immunization with rec47 alone or with rec47 plus heat-labile enterotoxin B subunit from <i>Escherichia coli</i> or plus cholera toxin (CT) as adjuvants induced a higher amount of rec47-specific antibodies than intramuscular immunization with p47 alone or with p47 plus pBOOST2-samIRF7/3 (pB) as adjuvant. 28719308 2017
Diabetes Mellitus, Insulin-Dependent
0.010 Biomarker disease BEFREE The insulin-sensitising molecule 'adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1' (APPL1), which contains an NH<sub>2</sub>-terminal Bin/Amphiphysin/Rvs domain, a central pleckstrin homology domain and a COOH-terminal phosphotyrosine-binding domain, has been shown to modulate inflammatory response in various cell types but its role in regulating beta cell mass and inflammation in type 1 diabetes remains unknown. 28011992 2017
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
0.010 Biomarker disease BEFREE Chronic intracellular Ca<sup>2+</sup> overload in hepatocytes during obesity and hyperlipidemia attenuates the phosphorylation of protein kinase B (Akt) and its key downstream signaling molecules by inhibiting membrane localization of pleckstrin homology (PH) domains. 29078297 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Here, we show that the rab5 effector APPL1 (adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and leucine zipper motif) mediates rab5 overactivation in Down syndrome (DS) and AD, which is caused by elevated levels of the β-cleaved carboxy-terminal fragment of APP (βCTF). 26194181 2016
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 Biomarker disease BEFREE Here, we show that the rab5 effector APPL1 (adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and leucine zipper motif) mediates rab5 overactivation in Down syndrome (DS) and AD, which is caused by elevated levels of the β-cleaved carboxy-terminal fragment of APP (βCTF). 26194181 2016
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
0.010 Biomarker disease BEFREE Here, we show that the rab5 effector APPL1 (adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and leucine zipper motif) mediates rab5 overactivation in Down syndrome (DS) and AD, which is caused by elevated levels of the β-cleaved carboxy-terminal fragment of APP (βCTF). 26194181 2016
CUI: C0017638
Disease: Glioma
Glioma
0.010 Biomarker disease BEFREE We further revealed that significant variations in polarity and hydropathy values among the Akt isoforms in both the pleckstrin homology domain (P domain) and regulatory domain (R domain) were critical in mediating glioma progression. 25737557 2015
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 AlteredExpression disease BEFREE Only one gene, pleckstrin (PLEK), was significantly overexpressed in periodontitis, CVD, RA, and UC, implicating this gene as an important networking link between these chronic inflammatory diseases. 26686060 2015
CUI: C0011269
Disease: Dementia, Vascular
Dementia, Vascular
0.010 Biomarker disease BEFREE Genetic analysis with 80 SNPs of pleckstrin homology like domain beta 2 (PHLDB2) revealed 6 SNPs associated with VaD (P < 6.25 × 10(-4)). 22111664 2013
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 Biomarker disease BEFREE Expression of ORP4S, an ORP4 variant that lacked the N-terminal pleckstrin-homology domain but contained the C-terminal oxysterol-binding domain also inhibited HCV replication, pointing to an important role of the oxysterol-binding domain in ORP4-mediated inhibition of HCV replication. 24069433 2013
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
0.010 GeneticVariation disease BEFREE Using a panel of 46,449 polymorphisms from roughly 2,100 candidate genes on a customized Illumina iSelect chip, we tested for association with the apnea hypopnea index (AHI) as well as moderate to severe OSA (AHI≥15) in 3,551 participants of the Cleveland Family Study and two cohorts participating in the Sleep Heart Health Study.Among 647 African-Americans, rs11126184 in the pleckstrin (PLEK) gene was associated with OSA while rs7030789 in the lysophosphatidic acid receptor 1 (LPAR1) gene was associated with AHI using a chip-wide significance threshold of p-value<2×10(-6). 23155414 2012
CUI: C4739246
Disease: Apnea+hypopnea
Apnea+hypopnea
0.010 GeneticVariation disease BEFREE Using a panel of 46,449 polymorphisms from roughly 2,100 candidate genes on a customized Illumina iSelect chip, we tested for association with the apnea hypopnea index (AHI) as well as moderate to severe OSA (AHI≥15) in 3,551 participants of the Cleveland Family Study and two cohorts participating in the Sleep Heart Health Study.Among 647 African-Americans, rs11126184 in the pleckstrin (PLEK) gene was associated with OSA while rs7030789 in the lysophosphatidic acid receptor 1 (LPAR1) gene was associated with AHI using a chip-wide significance threshold of p-value<2×10(-6). 23155414 2012
Diabetes Mellitus, Non-Insulin-Dependent
0.010 Biomarker disease BEFREE Increased abundance of the adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and leucine zipper motif (APPL1) in patients with obesity and type 2 diabetes: evidence for altered adiponectin signalling. 21562756 2011
CUI: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE Increased abundance of the adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and leucine zipper motif (APPL1) in patients with obesity and type 2 diabetes: evidence for altered adiponectin signalling. 21562756 2011
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.010 GeneticVariation disease BEFREE Therefore, to explore the possible role of endogenous Akt signaling in maintaining the viability and functionality of substantia nigra (SN) dopamine neurons, one of the principal systems affected in PD, we have used an adeno-associated viral vector to transduce them with a dominant negative (DN) form of Akt, the pleckstrin homology (PH) domain alone (DN(PH)-Akt). 21782946 2011
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.010 Biomarker phenotype BEFREE In a patient with a heterozygous mutation in RUNX1, we have described decreased platelet pleckstrin phosphorylation and protein kinase C- (PKC-, gene PRKCQ) associated with thrombocytopenia, impaired platelet aggregation, and dense granule secretion. 21252065 2011
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 GeneticVariation disease BEFREE Mislocalization of the E3 ligase, β-transducin repeat-containing protein 1 (β-TrCP1), in glioblastoma uncouples negative feedback between the pleckstrin homology domain leucine-rich repeat protein phosphatase 1 (PHLPP1) and Akt. 21454620 2011