Ask about this productRelated genes to: COPA Blocking Peptide
- Gene:
- COPA NIH gene
- Name:
- coatomer protein complex subunit alpha
- Previous symbol:
- -
- Synonyms:
- HEP-COP
- Chromosome:
- 1q23.2
- Locus Type:
- gene with protein product
- Date approved:
- 1996-11-15
- Date modifiied:
- 2019-04-23
Related products to: COPA Blocking Peptide
Related articles to: COPA Blocking Peptide
- Inborn errors of immunity (IEIs) encompass a heterogeneous group of more than 550 genetic conditions with variable ages of onset. A significant proportion of IEI arises from genetic variants that may not yet be fully elucidated or recorded in existing genomic databases. Molecular diagnoses are achieved in approximately 15-35% of IEI cases, yet in only 9-20% of individuals with predominant antibody deficiencies, particularly in adult cohorts. We aimed to evaluate whole genome sequencing (WGS) diagnostic yield in adults suspected to have IEI. Clinical assessments of the patients were carried out at tertiary medical institutions in Timisoara and Bucharest, Romania. The study cohort included a consecutive series of 21 adult patients (aged 19-60 years) with IEI phenotype, who underwent genetic analysis, using WGS as the first diagnostic approach. A definitive molecular diagnosis was confirmed in only 9.5% (2/21) of the participants, in and genes. Variants of uncertain significance (VUS) were detected in three patients (13.6%) in , , genes. For about half of the cohort the onset of the disease was noted in childhood. WGS as a first-line diagnostic strategy in a cohort of adults with IEI yielded a low diagnostic rate. There were significant delays in genetic diagnosis, as half of the cohort experienced childhood-onset symptoms. Results suggest that adult IEI diagnosis remains challenging, necessitating functional studies and longitudinal re-evaluation of genomic data. - Source: PubMed
Publication date: 2026/04/10
Pantea Cristina-LoredanaBataneant MihaelaJurcut CiprianCochino AlexisIoan AndreeaMunteanu Catalin VasileZimbru Cristian GUrtila PatriciaChirita-Emandi Adela - Copper (Cu) is an essential micronutrient that serves as a cofactor for redox enzymes but becomes toxic when unregulated. In bacteria, while Cu efflux systems are well characterized, mechanisms of Cu import remain poorly understood. Here, we characterize the major facilitator superfamily transporter CuiT (STM1486) as a key Cu importer in . Comparative genomics revealed that is evolutionarily conserved across Enterobacteriaceae, and structural modeling predicts a 12-transmembrane-helix architecture with conserved His, Met, and Cys residues suitable for Cu coordination. Functional analyses demonstrated that deletion of reduces intracellular Cu accumulation, slows Cu uptake kinetics, and diminishes expression of Cu-responsive genes, including , , , and . Conversely, overexpression of CuiT increases intracellular Cu but sensitizes cells to Cu stress, highlighting the need for tight regulation. Kinetic modeling indicates that CuiT mediates rapid Cu import, supporting larger intracellular Cu pools compared to influx transporters. These findings position CuiT as a central component of the Cu homeostasis network, linking Cu import to transcriptional regulation, redox balance, and stress adaptation. Our work provides mechanistic insights into bacterial Cu acquisition and suggests CuiT and associated pathways as potential targets for antimicrobial strategies. - Source: PubMed
Publication date: 2026/04/17
Zhao ZhenzhenDíaz Rodríguez Karla FMendez Andrea A ESommer Lisandro MMendes PedroSoncini Fernando CCheca Susana KPadilla-Benavides TeresitaArgüello José M - Pathological scars, including hypertrophic scars and keloids, are fibrotic skin disorders marked by excessive collagen deposition and persistent inflammation, yet effective treatments remain limited. - Source: PubMed
Publication date: 2026/04/08
Li PengfeiLuo ZuchengAli MohyeddinLi JianruiQi Fazhi - Filamentous fungi exhibit high heavy metal resistance; elucidating their resistance mechanisms is of practical importance for fungal utilization and for engineering other microorganisms. However, the molecular basis of copper tolerance in filamentous fungi remains poorly understood, with few studies addressing this specific trait. Previously, we isolated a copper-hyper-resistant strain, GXCR, and generated two mutagenized derivatives, EC-6 and UC-8. To investigate copper resistance, wild-type GXCR (WT) and mutants EC-6 and UC-8 were subjected to integrated physiological, biochemical, and transcriptomic analyses. Copper tolerance followed the rank order: WT > UC-8 > EC-6. Supplementation with Mn or exogenous proline enhanced copper resistance. Under copper stress, intracellular reactive oxygen species (ROS) levels increased in all strains, correlating dynamically with activities of superoxide dismutase (SOD), peroxidase (POD), and catalase (CAT), as well as malondialdehyde (MDA) content, with all exhibiting a biphasic response: an initial rise followed by a decline with increasing Cu concentration. WT accumulated less Cu and Cd but more Cr (at high concentration) than the mutants. In contrast, intracellular Pb accumulation in all three strains decreased monotonically with rising Pb doses. RNA-seq of WT and EC-6 grown in TYB with 0, 0.5 and 3 mM Cu identified 8 copper-resistance-related genes, verified by real-time quantitative reverse transcription PCR (RT-qPCR). Weighted gene co-expression network analysis (WGCNA) clustered genes into 10 modules; integrating physiological data identified 10 traits, and the four most correlated modules yielded 116 hub genes mostly linked to energy metabolism, cell components and transporters. and , encoding Cu-exporting ATPases, were identified as central regulators of copper homeostasis and key contributors to enhance copper tolerance. These findings provide molecular insights into copper resistance of filamentous fungi and valuable genetic targets for rational strain engineering. - Source: PubMed
Publication date: 2026/04/04
Zhang QinHuang ShaokeKhan AbrarGan HaimanWang JinziLiu YongqiangTeng TianlinWei FeiyanXu JianChen Xiaoling - Microglial dysfunction is a hallmark of Alzheimer's disease (AD), yet the molecular mechanisms driving these impairments remain poorly defined. Genetic studies implicate several AD-associated genes in regulating microglial activity, including SORL1, which encodes the sorting receptor SorLA. Although SorLA is highly expressed in microglia, its functional role in cellular homeostasis has remained unclear. Here, we investigated SorLA function using human brain tissue, primary microglia from rapid autopsies, and CRISPR-engineered human iPSC-derived microglia and neurons. Integrated multi-omics analyses, including single-cell RNA sequencing, lipidomics, and proteomics, together with biochemical and functional assays, revealed that SorLA deficiency induces endoplasmic reticulum (ER) stress and interferon signaling, promotes lipid droplet accumulation, and impairs phagocytic and immune functions. Protein co-complex mapping and structural modeling identified ER-associated proteins co-enriched with SorLA, including SUN2, calnexin (CANX), and multiple COPI complex components (COPA, COPB1, COPG1, ARCN1), implicating SorLA in ER proteostasis and intracellular trafficking. Notably, SORL1 deletion in iPSC-derived neurons recapitulated key phenotypes observed in microglia, including lipid droplet accumulation and SorLA-SUN2 co-immunoprecipitation, indicating that this ER-associated pathway operates across distinct brain cell types. Together, these findings identify an ER-related role for SorLA that extends beyond its established function in endocytic trafficking. Loss of SorLA triggers maladaptive stress responses, perturbs lipid handling, and compromises cellular resilience, thereby contributing to AD-relevant cellular dysfunction. - Source: PubMed
Publication date: 2026/04/06
Haq ImdadulNgo Jason CRoy NainikaLee EmilyChoudhury Muniyat ASoni Rajesh KTeich Andrew FMayeux Richard PDe Jager Philip LHe YeWu XuebingBennett David AOlah MartaSher Falak