Ask about this productRelated genes to: EPM2AIP1 antibody
- Gene:
- EPM2AIP1 NIH gene
- Name:
- EPM2A interacting protein 1
- Previous symbol:
- -
- Synonyms:
- KIAA0766, FLJ11207
- Chromosome:
- 3p22.2
- Locus Type:
- gene with protein product
- Date approved:
- 2003-03-26
- Date modifiied:
- 2016-10-05
Related products to: EPM2AIP1 antibody
Related articles to: EPM2AIP1 antibody
- Dysregulated lipid metabolism and neuroinflammation are increasingly recognized as interacting contributors to Alzheimer's disease (AD), but the cell-type-specific genetic links between fatty acid metabolism and AD remain incompletely defined. This study aimed to identify fatty acid metabolism-related genes associated with AD risk and to characterize their relevance to perivascular macrophage (PVM) states. Single-cell RNA-sequencing data from GSE160936 and bulk transcriptomic data from GSE270454 were integrated to evaluate cell-type-specific fatty acid metabolism activity in AD and control samples.The primary data sources, fatty acid metabolism gene set, AUCell scoring strategy, CellChat workflow, GSEA resources, and MR software settings were specified to improve reproducibility. PVMs were further analyzed for differential expression, ligand-receptor communication, pathway enrichment, transcription factor regulation, and pseudotime-associated transcriptional changes. Cis-eQTL-based two-sample Mendelian randomization was performed using eQTLGen exposure data and AD GWAS summary statistics, followed by sensitivity analyses, reverse MR, and Bayesian colocalization.The analyses were interpreted across three distinct evidence levels: cell-type-resolved transcriptional association, systemic genetic expression prioritization, and tissue-level protein expression. Nominal MR findings were interpreted alongside multiple-testing considerations and colocalization support.Candidate protein expression was examined in hippocampal tissue from APP/PS1 and wild-type mice by Western blotting. Single-cell analysis identified eight major cell populations and showed increased fatty acid metabolism activity in PVMs from AD samples. Mendelian randomization prioritized ten fatty acid metabolism-related genes associated with AD risk, among which ACSL1, EPM2AIP1, MALT1, and RASGRP3 showed strong colocalization support (PP.H4 > 0.9). Pathway analyses linked these genes to lipid metabolic regulation, inflammatory signaling, phagocytosis, and mitochondrial/peroxisomal fatty acid metabolism. Co-expression analysis suggested associations between MALT1 and fatty acid oxidation-related genes, including ACADM and ACOX1. Western blotting in whole hippocampal lysates from APP/PS1 mice provided exploratory tissue-level protein evidence, showing increased ACSL1 and MALT1 and decreased RASGRP3 expression; these findings should not be interpreted as confirmatory PVM-specific validation. This integrative analysis prioritizes ACSL1, EPM2AIP1, MALT1, and RASGRP3 as candidate genes connecting fatty acid metabolic dysregulation with AD-associated neuroinflammatory processes. Because the genetic instruments were blood-derived and the protein assays used whole hippocampal lysates, the findings should be interpreted as candidate-gene prioritization and hypothesis generation rather than proof of direct PVM-specific causality.Accordingly, the study supports a prioritized candidate framework for future functional testing, not validated therapeutic targets or direct causal proof. - Source: PubMed
Publication date: 2026/08/11
Wang FanWang XiangyangChen YuhuiLi QingWang ShuoCai MinZhao Jianhua - Porcine Sertoli cells (SCs) treated by acute heat stress (HS) (43°C, 0.5 h) have significantly decreased taurine level. Taurine treatment of porcine SCs could promote proliferation, inhibit apoptosis, enhance mitochondrial function and modulate protein profile. However, whether taurine can alleviate damages of porcine SCs caused by acute HS is unknown. We here showed that treatment of porcine SCs using taurine (5.7 μM) for 12 h before acute HS (HS0.5-B12-Taurine) significantly rescued damages induced by acute HS (HS0.5-Control), including cell viability, proliferation, apoptosis, intracellular reactive oxygen species (ROS) levels, mitochondrial number, and lactate content. Transcriptome sequencing identified 18 differentially expressed genes (DEGs) (HS0.5-B12-Taurine vs. HS0.5-Control), mainly enriched in Gene Ontology (GO) terms of apoptosis, transmembrane transport, inward rectifier potassium channel activity, and 2 iron/2 sulfur cluster binding. RT-qPCR validated expression of 5 DEGs (GRIA4, KCNJ13, PTER, RAB44 and SLC12A8) and 7 other genes (AFF4, CXCL8, DENND5B, EPM2AIP1, SLC6A6, SSH2 and WNK3), most of them showing change trend consistent with RNA-seq results. Moreover, HDAC5 was confirmed to be significantly reduced in HS0.5-B12-Taurine (Western blotting: P < 0.05; Immunofluorescence: P < 0.01). Collectively, these findings suggest that taurine protects porcine SCs against damages induced by acute HS. - Source: PubMed
Publication date: 2026/07/23
Liu Xiao-YingHao Ruo-BingWang Xin-XinYin ZongjunDu Zhi-QiangYang Cai-Xia - Endometrial cancer (EC) with deficient mismatch repair (dMMR) is a promising target for immune checkpoint inhibitor therapy. However, dMMR tumors are heterogeneous, and those with MLH1 promoter methylation respond less favorably to pembrolizumab monotherapy than Lynch syndrome-associated cases. Evidence for optimal treatment strategies in pembrolizumab-refractory dMMR tumors remains limited. - Source: PubMed
Publication date: 2026/03/17
Kamiya NatsukoTakekuma MunetakaHiraki TsubasaKunishi MaoIgasaki MariEto ChikaShigeyama MunehisaMisaka SatokiKawamura AtsukoKado NobuhiroFurusawa AkikoMochizuki AyakoTakahashi NobutakaHirashima Yasuyuki - Mismatch repair (MMR) status in endometrial carcinoma (EC) is crucial for diagnosis, prognosis, treatment, and Lynch syndrome pre-screening. MLH1 loss is the most frequent cause of MMR deficiency and usually by promoter hypermethylation. We tried to confirm the role of EPM2 AIP1 immunohistochemistry as a surrogate of MLH1 promoter methylation in EC. Case series from two different institutions were analyzed by comparable methods using immunohistochemistry for MMR proteins and EPM2 AIP1, and pyrosequencing for MLH1 methylation. In the first series of 70 cases, concordance was 100%, after reassessing three cases with methylation scores close to cut-off, by tumor cell enrichment. In the second series of 29 MLH1-deficient ECs, concordance was 96.5%, while in the control group of 30 MMR-proficient EC, one MLH1-positive case was EPM2 AIP1-negative. EPM2 AIP1 immunoreactivity was qualitatively superior in curettages and biopsies compared to hysterectomy. We conclude that EPM2 AIP1 immunohistochemistry is a good surrogate for MLH1 promoter methylation analysis, cost-effective with short turnaround time, but needs attention regarding preanalytical handling, normal tissue contamination, or low tumor percentage. - Source: PubMed
Publication date: 2025/06/05
Gatius SoniaVaquero MartaScheiber OliverVelasco AnaCuevas DolorsKashofer KarlSantacana MariaEritja NúriaLax SigurdMatias-Guiu Xavier - Disulfidptosis is a new type of regulatory cell death (RCD), but the pathophysiological functions and mechanisms of DRGs in CESC remain to be examined. - Source: PubMed
Kang MinJiang ShaChen HuihuiXu YouhuaMo Hui