Ask about this productRelated genes to: NBEAL1 Blocking Peptide
- Gene:
- NBEAL1 NIH gene
- Name:
- neurobeachin like 1
- Previous symbol:
- ALS2CR17, ALS2CR16
- Synonyms:
- MGC164581
- Chromosome:
- 2q33.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-11-26
- Date modifiied:
- 2016-10-05
Related products to: NBEAL1 Blocking Peptide
Related articles to: NBEAL1 Blocking Peptide
- Structural variants (SVs) are a major source of genetic variation yet remain underexplored in healthy aging and neurodegenerative diseases. We performed nanopore long-read genome sequencing (lrGS) on 551 deeply-phenotyped individuals from Stanford's Aging and Memory Study and Alzheimer's Disease Research Center, generating a comprehensive SV map integrated with matched methylation, transcriptomic, and proteomic data. Over 60% of SVs identified by lrGS were not detected with short-read WGS, including many poorly tagged by single-nucleotide variants (SNVs). We discovered >60,000 SV-QTLs across molecular traits and showed that SVs were more likely than SNVs to be fine-mapped as causal. Colocalization with Alzheimer's and Parkinson's disease GWAS implicated SVs at multiple loci, including , , and . Multi-omic outlier enrichment and Bayesian modeling prioritized rare functional SVs near known risk genes. Combined, these data reveal widespread regulatory SVs in healthy aging and neurodegeneration, underscoring the importance of lrGS in deciphering complex genetic architecture. - Source: PubMed
Publication date: 2025/10/29
Jensen Tanner DLe Guen YannTalozzi LiaYang SherryGorzynski JohnPeña-Tauber AndrésStewart IlariaFerrasse AlexisNachun DanielArriaga Maggie TLee JustinPulgrossi Rafael CatoiaPark JunyoungZhang JingyuWagner Anthony DMormino Elizabeth CPoston Kathleen LHenderson Victor WHe ZihuaiWyss-Coray TonyMontgomery Stephen BAshley Euan AGreicius Michael D - Next-generation sequencing (NGS) allows for the simultaneous sequencing of multiple cancer predisposition genes. We assessed the frequency and spectrum of germline variations in individuals with ovarian cancer (OC), using whole exome sequencing (WES). - Source: PubMed
Publication date: 2025/05/22
Guan XiaojingLiao ShengZhang FenglanZhu QianyuanQiu HaoQin LanZhang Xiao - Assessments of breast cancer (BC) risk in carriers of pathogenic variants identified by gene panel testing in different populations are highly in demand worldwide. We performed target sequencing of 78 genes involved in DNA repair in 860 females with BC and 520 age- and family history-matched controls from Central Russia. Among BC patients, 562/860 (65.3%) were aged 50 years or less at the time of diagnosis. In total, 190/860 (22%) BC patients were carriers of 198 pathogenic/likely pathogenic (P/LP) variants in 30 genes, while among controls, 32/520 (6.2%) carriers of P/LP variants in 17 genes were identified. The odds ratio [95% confidence interval] was 16.3 [4.0-66.7] for ; 12.0 [2.9-45.9] for ; and 7.3 [0.9-56.7] for ( < 0.05). Previously undescribed and variants, as well as novel recurrent mutations, were identified. The contribution to BC susceptibility of truncating variants in the genes , , , (p. E1155*), and (p. P32fs) was evaluated. The , , and genes did not demonstrate associations with BC risk. Finding deleterious mutations in BC patients is important for diagnosis and management; in controls, it opens up the possibility of prevention and early diagnostics. - Source: PubMed
Publication date: 2024/11/25
Shumilova SyuykumDanishevich AnastasiaNikolaev SergeyKrasnov GeorgeIkonnikova AnnaIsaeva DaryaSurzhikov SergeiZasedatelev AlexanderBodunova NataliaNasedkina Tatiana - Hematopoietic stem cells (HSCs) can generate all blood cells. This ability is exploited in HSC transplantation (HSCT) to treat hematologic disease. A clear understanding of the molecular mechanisms that regulate HSCT is necessary to continue improving transplant protocols. We identified the Beige and Chediak-Higashi domain-containing protein (BDCP), Neurobeachin (NBEA), as a putative regulator of HSCT. Here, we demonstrated that NBEA and related BDCPs, including LPS Responsive Beige-Like Anchor Protein (LRBA), Neurobeachin Like 1 (NBEAL1) and Lysosomal Trafficking Regulator (LYST), are required during HSCT to efficiently reconstitute the hematopoietic system of lethally irradiated mice. Nbea knockdown in mouse HSCs induced apoptosis and a differentiation block after transplantation. Nbea deficiency in hematopoietic progenitor cells perturbed the expression of genes implicated in vesicle trafficking and led to changes in NOTCH receptor localization. This resulted in perturbation of the NOTCH transcriptional program, which is required for efficient HSC engraftment. In summary, our findings reveal a novel role for NBEA in the control of NOTCH receptor turnover in hematopoietic cells and supports a model in which BDCP-regulated vesicle trafficking is required for efficient HSCT. - Source: PubMed
Ganuza MiguelMorales-Hernández AntonioVan Huizen AlannaChabot AshleyHall TrentCaprio ClaireFinkelstein DavidKilimann Manfred WMcKinney-Freeman Shannon - Glioblastoma (GBM) emerges as the most common malignant brain tumor. Histone modifications, as an epigenetic regulatory mechanism of gene expression, are closely associated with malignant tumors. Gene set related to histone modification was extracted from the MSigDB database, and scored by the function of AddModuleScore. Pearson correlation analysis was utilized using the "rcorr" function of "Hmisc" R package. Genes were screened out using the LASSO Cox analysis. TCGA-GBM and CGGA_array_301 cohorts were employed for constructing model and validation. We calculated immune infiltration scores using microenvironment cell populations counter (MCPcounter), single-sample gene set enrichment analysis (ssGSEA), and xCell algorithms. U87-MG and CHG-5 cell lines were utilized to evaluate expression level of TMEM176A by western blot (WB). Transwell, EDU, colony formation analysis (CFA), and CKK-8 assays were conducted to investigate cell proliferation and migration rate. The malignant cells in GBM patients exhibited notable activation in the TGF-β and hypoxia pathway. Histone modifications were associated with adhesion and neuron development in GBM. We identified a model with five significant genes, namely NBEAL1, AEBP1, TMEM176A, FASTK, and CD81, with prognostic efficacy. Additionally, we observed increased infiltration of T cells and CD8+ T cells in the high-risk (HR) group. 5-Fluorouracil_1073 and Taselisib_1561 were predicted as potential treatment options for GBM patients, while ABT737_1910 and Wnt_C59-1622 exhibited superior response in GBM patients of the HR group. A spike in the TP53 mutation rate was observed in the HR group. TMEM176A played a role in regulating cell proliferation and migration in vitro. We presented a novel prognostic model for patients with GBM, based on histone modification-related genes. In addition, we identified the crucial role of the TMEM176A in the regulation of GBM carcinogenic phenotypes for the first time. - Source: PubMed
Publication date: 2023/09/21
Wang YunhuiJi LiKangJi ChunfengWang Fan