ATP8B4
- Known as:
- ATP8B4
- Catalog number:
- 002262A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ATP8B4
Related genes to: ATP8B4
- Gene:
- ATP8B4 NIH gene
- Name:
- ATPase phospholipid transporting 8B4 (putative)
- Previous symbol:
- -
- Synonyms:
- ATPIM, KIAA1939
- Chromosome:
- 15q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-01-26
- Date modifiied:
- 2016-06-28
Related products to: ATP8B4
Related articles to: ATP8B4
- Alzheimer's disease and related dementias (ADRD) and Parkinson's disease and related disorders (PDRD) have substantial genetic contributions, yet the role of rare damaging coding variants remains incompletely characterized at population scale. We performed gene-based burden testing of rare loss-of-function and deleterious missense variants using whole-genome sequencing data from large population biobanks combined with disease-specific sequencing cohorts, leveraging proxy phenotypes to maximize statistical power for late-onset neurodegenerative diseases. We confirmed rare variant burden in established ADRD genes () and PDRD genes (). We additionally identified novel associations in ADRD () and PDRD (). The strongest signal was observed for , where damaging variants clustered within domains mediating interactions with Rab GTPases and retromer components. Our results demonstrate the power of population-scale sequencing combined with proxy phenotypes to identify rare coding risk genes for neurodegenerative diseases. - Source: PubMed
Publication date: 2026/03/04
Le Guen YannPeña-Tauber AndrésPulgrossi Rafael CatoiaPark JunyoungOrias HoldenGreicius Michael D - Lung cancer, primarily non-small cell lung cancer (NSCLC), causes the highest cancer-related mortality. Although PD-1/PD-L1 inhibitors have improved survival in advanced NSCLC, they can cause immune-related adverse events. Cordyceps sinensis (C. sinensis), a traditional Chinese medicine used for tonifying the lung and kidney and enhancing immune function, has shown therapeutic promise in combination with anti-PD-1 therapy for NSCLC. This study aimed to explore the anti-tumor effect of wild C. sinensis combined with anti-mouse PD-1 in the treatment of Lewis lung adenocarcinoma (LLC) and to elucidate the underlying pharmacodynamic mechanism. LLC mouse model was established via inoculation with LLC cells, followed by treatment with anti-mouse PD-1, C. sinensis, or their combination. The tumor volume, weight, and histological changes of LLC mice were evaluated. The proportions of tumor-infiltrating immune cells in blood and tumors were evaluated by flow cytometry, immunohistochemistry, and immunofluorescence. The underlying mechanisms of the combination of C. sinensis and anti-mouse PD-1 therapy in LLC mice were investigated using an integrated transcriptomics and metabolomics analysis. Treatment with anti-mouse PD-1, C. sinensis, or their combination significantly reduced tumor volume and weight, and attenuated the histopathological changes of LLC mice tumors. Among which, medium-dose C. sinensis combination exhibited significant improvements. Furthermore, the combination of C. sinensis and anti-mouse PD-1 significantly increased the proportion of CD8+ T cells and decreased the abundance of Tregs and PMN-MDSCs. Integrated transcriptomics and metabolomics analysis revealed that the combination of C. sinensis and anti-mouse PD-1 can enhance anti-tumor immunity in LLC mice by acting on key immune-related genes, including DGKA, PLA2G7, AMPD1, ATP8B4, and BST1, thereby modulating glycerophospholipid metabolism, the TCA cycle, purine metabolism, and nicotinate-nicotinamide metabolism. Wild C. sinensis combined with anti-mouse PD-1 therapy exerts therapeutic effects against LLC by targeting immune-related genes, modulating associated pathways, increasing the proportion of CD8+ T cells, and reducing the infiltration of Tregs and PMN-MDSCs, thereby suppressing tumor growth and inhibiting LLC progression. Further research and clinical studies are needed to validate and expand upon these promising findings. - Source: PubMed
Publication date: 2026/02/04
Liu YingyingGao YaqiSuonanlamao Ma YuananXiao YuancanWei LixinZhou Wenbin - Ageing, marked by cumulative molecular damage, now leaves most adults spending nearly a decade in poor health. To date, no therapies directly target the ageing process. We performed a large-scale genome-wide association study to identify potential drug targets for extending health span. - Source: PubMed
Publication date: 2025/09/26
Cai ZhikangYang YueQu PengFu SensongLi Xu - Cardiac fibrosis arises from the abnormal activation of cardiac fibroblasts (CFs) in response to both chemical and mechanical stressors. While extracellular matrix (ECM) stiffness is a key determinant of fibroblast behavior, the molecular mechanisms linking mechanical signals to gene expression remain poorly understood. To address this gap, we developed a three-dimensional (3D) hydrogel system that mimics the ECM stiffness of normal, mid-stage, and fibrotic myocardium. Using RNA sequencing, we identified mechanosensitive genes in CFs cultured within this system. Weighted gene co-expression network analysis (WGCNA) revealed a 98-gene cluster, encompassing PCSK6, ATP8B4, THBS2, and DCN, among others, which was significantly upregulated across stiffness gradients. Single-cell RNA sequencing from myocardial infarction and pressure overload-induced cardiac fibrosis models validated the mechanosensitivity of these genes, uncovering distinct temporal expression patterns under acute versus chronic mechanical stress. Notably, the marked upregulation of this gene cluster in human dilated and hypertrophic cardiomyopathy samples underscores its clinical relevance. Functional assays confirmed the crucial roles of THBS2 and DCN in fibroblast activation. Collectively, our findings deepen the understanding of the mechanobiology underlying cardiac fibrosis and highlight potential diagnostic markers and therapeutic targets for modulating mechanical stress in this pathological condition. - Source: PubMed
Publication date: 2025/08/20
Chen HengChen YuxiaoYang JinanYang PengCheng HongqiangGuo Xiaogang - Alzheimer's disease (AD) is a neurodegenerative disorder that is presented with a progressive loss of memory, a decline in cognitive abilities and multiple changes in behavior. Its pathogenicity has been linked to genetic factors in approximately 60-80% of the cases specifically APOE gene family and as well as other gene families. This study utilized advanced computational biology methods to analyze AD-associated nsSNPs extracted from the NHGRI-EBI GWAS Catalog. Ensembl Variant Effect Predictor (VEP) is used to annotate the variants associated with AD. Annotated missense variants were subjected to PolyPhen-2, SNPs&Go, PredictSNP servers which were used to predict pathogenicity of selected missense variants by protein sequence information. DynaMut and DUET servers were applied to determine protein stability due to the amino acid change by integrating protein structure information. Missense variations associated with AD were annotated to 26 proteins and further analyzed in our study. Following rigorous data filtration steps, 15 candidate variants (13 proteins) were identified and subjected to sequence and structure-based analysis. Finally in this in-silico study, five deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) were identified in ACKR2(V41A), APOE(R176C), ATP8B4(G395S), LAMB2(E987K), and TOMM40(R239W), and these findings were subsequently backed-up by existing in-vivo and in-vitro literature. This study not only provides invaluable insight into the intricate pathogenic mechanisms underlying AD but also offers a distinctive perspective that paves the way for future, more comprehensive investigations aimed at unraveling the molecular intricacies responsible for the development and progression of AD. Nonetheless, it is imperative that further rigorous in vivo and in vitro experiments are conducted to validate and expand upon the findings presented here. - Source: PubMed
Publication date: 2024/11/26
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