Ask about this productRelated genes to: VPS8 Blocking Peptide
- Gene:
- VPS8 NIH gene
- Name:
- VPS8 subunit of CORVET complex
- Previous symbol:
- KIAA0804
- Synonyms:
- FLJ32099
- Chromosome:
- 3q27.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-02-25
- Date modifiied:
- 2019-01-25
Related products to: VPS8 Blocking Peptide
Related articles to: VPS8 Blocking Peptide
- Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiovascular disorder characterized by ventricular wall thickening and myocardial fibrosis. Centrosome duplication-related gene play critical roles in cell cycle regulation, microtubule organization, and cellular structural homeostasis; however, their mechanistic involvement in HCM remains unclear. - Source: PubMed
Publication date: 2026/06/09
Li HuiganLiu WeihuaHuang XunYou ZhigangHuang Lin - Parkinson's disease (PD) represents one of the most frequent neurodegenerative disorders for which genetic diagnosis is still challenging due to the high genetic heterogeneity associated with the disease and to the difficulty in interpreting test results. We have recently reported the identification of rare new gene variants in PD patients that support polygenic contribution to the disease. Here we report the identification of novel candidate PD genes and an exploratory protocol for predictive analysis of PD risk. The study includes the whole exome data of 22 PD families, 300 unrelated familiar PD, 504 unrelated sporadic PD and 664 healthy subjects. Family-based approach identified rare and disrupting variants in 44 candidate PD genes co-inherited by affected relatives. The analysis of the entire cohort discovered a significant excess of rare and deleterious variants in PD patients compared to controls in 7 genes out of the 44 identified in the families. Five of these, known as ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8, were novel candidate PD genes, expressed in human dopaminergic neurons, and involved in signal transduction pathways and in endocytic recycling. In these genes, we identified both rare probably damaging variants, altering protein structure and dynamics, as well as frequent variants associated with PD risk. Moreover, we demonstrated that the co-inheritance of multiple rare variants (≥ 2) in a panel of 37 PD genes selected in this study, may predict disease risk in about 26 % of patients, both familial and sporadic cases, with high specificity (> 92 %; p ≤0.00001). Furthermore, patients carrying multiple rare variants showed higher risk of manifesting dyskinesia induced by levodopa treatment (p = 0.004), severe cognitive impairment (p = 0.009) and an earlier age at onset of the disease (p = 0.01). Despite the still exploratory nature of the study, these data provide novel insights into the genetic of PD and may be relevant for its prediction, diagnosis and treatment. - Source: PubMed
Publication date: 2025/06/08
Carrillo FedericaPalomba Nicole PieraPietracupa SaraIaniro LauraFortunato GiorgioDegasperi MargheritaGiloni TizianaDe Bartolo Maria IleniaPavone LuigiNutile TeresaModugno NicolaLicastro DaniloEsposito Teresa - Powdery mildew fungi are serious pathogens affecting many plant species. Their genomes encode extensive repertoires of secreted effector proteins that suppress host immunity. Here, we revised and analyzed the candidate secreted effector protein (CSEP) effectome of the powdery mildew fungus, Blumeria hordei (Bh). We identified seven putative effectors that are broadly conserved in powdery mildew species, suggesting that they are core effectors of these phytopathogens. We showed that one of these effectors, CSEP0214, interacts with the barley (Hordeum vulgare) vacuolar protein-sorting 18 (VPS18) protein, a shared component of the class C core vacuole/endosome tethering (CORVET) and homotypic fusion and protein-sorting (HOPS) endosomal tethering complexes that mediate fusion of early endosomes and multivesicular bodies, respectively, with the central vacuole. Overexpression of CSEP0214 and knockdown of either VPS18, HOPS-specific VPS41, or CORVET-specific VPS8 blocked the vacuolar pathway and the accumulation of the fluorescent vacuolar marker protein (SP)-RFP-AFVY in the endoplasmic reticulum. Moreover, CSEP0214 inhibited the interaction between VPS18 and VPS16, which are both shared components of CORVET as well as HOPS. Additionally, introducing CSEP0214 into barley leaf cells blocked the hypersensitive cell death response associated with resistance gene-mediated immunity, indicating that endomembrane trafficking is required for this process. CSEP0214 expression also prevented callose deposition in cell wall appositions at attack sites and encasements of fungal infection structures. Our results indicate that the powdery mildew core effector CSEP0214 is an essential suppressor of plant immunity. - Source: PubMed
Sabelleck BjörnDeb SohiniLevecque Sophie C JFreh MatthiasReinstädler AnjaSpanu Pietro DThordal-Christensen HansPanstruga Ralph - Myelodysplastic neoplasia with complex karyotype (CK-MDS) poses significant clinical challenges and is associated with poor survival. Detection of structural variants (SVs) is crucial for diagnosis, prognostication, and treatment decision-making in MDS. However, the current standard-of-care (SOC) cytogenetic testing, relying on karyotyping, often yields ambiguous results in cases with CK. Here, SV detection by novel optical genome mapping (OGM) technique was explored in 15 CK-MDS cases, which collectively harbored 85 chromosomes with abnormalities reported by SOC. Additionally, OGM was utilized in the discovery of novel SVs. Altogether, OGM detected corresponding > 5 Mbp alterations for 73 out of 85 SOC reported abnormalities, resulting in an 86% concordance rate. OGM provided further specification of these abnormalities, revealing that 64% of the altered chromosomes were affected by multiple SVs or chromoanagenesis. Prominently, only 5% of missing chromosomes reported by SOC were true monosomies. In addition, OGM detected alterations in chromosomes not reported as abnormal by karyotyping in 93% of cases and provided clinically relevant gene-level information, such as SVs in TP53, MECOM, NUP98, IKZF1, and ETV6. Analysis of novel SVs revealed two previously unreported gene-fusions (SCFD1::ZNF592 and VPS8::LRBA), both confirmed by transcriptome sequencing. Furthermore, the repositioning of CCDC26 (8q24.21) was identified as a potential cause of inappropriate gene activation in two cases, affecting MECOM and SOX7, respectively. This study shows that OGM can significantly enhance the diagnostic analysis of SVs in CK-MDS and highlights the utility of OGM identifying novel SVs in complex cancer genomes. - Source: PubMed
Valkama AndrianaVorimo SandraTervasmäki AnnaRäsänen HanneleSavolainen Eeva-RiittaPylkäs KatriMantere Tuomo - Chilika, a native buffalo breed of the Eastern coast of India, is mainly distributed around the Chilika brackish water lake connected with the Bay of Bengal Sea. This breed possesses a unique ability to delve deep into the salty water of the lake and stay there to feed on local vegetation of saline nature. Adaptation to salinity is a genetic phenomenon; however, the genetic basis underlying salinity tolerance is still limited in animals, specifically in livestock. The present study explores the genetic evolution that unveils the Chilika buffalo's adaptation to the harsh saline habitat, including both water and food systems. For this study, whole genome resequencing data on 18 Chilika buffalo and for comparison 10 Murrah buffalo of normal habitat were generated. For identification of selection sweeps, intrapopulation and interpopulation statistics were used. A total of 709, 309, 468, and 354 genes were detected to possess selection sweeps in Chilika buffalo using the nucleotide diversity (θπ), Tajima's D, nucleotide diversity ratio (θπ-ratio), and F methods, respectively. Further analysis revealed a total of 23 genes including , , , , , , , myosin light chain kinase 3 (), and were found to be common by all the methods. Furthermore, functional annotation study of identified genes provided pathways such as MAPK signaling, renin secretion, endocytosis, oxytocin signaling pathway, etc. Gene network analysis enlists that hub genes provide insights into their interactions with each other. In conclusion, this study has highlighted the genetic basis underlying the local adaptive function of Chilika buffalo under saline environment. Indian Chilika buffaloes are being maintained on extensive grazing system and have a unique ability to convert local salty vegetation into valuable human food. However, adaptability to saline habitat of Chilika buffalo has not been explored to date. Here, we identified genes and biological pathways involved, such as MAPK signaling, renin secretion, endocytosis, and oxytocin signaling pathway, underlying adaptability of Chilika buffalo to saline environment. This investigation shed light on the mechanisms underlying the buffalo's resilience in its native surroundings. - Source: PubMed
Publication date: 2024/07/01
Surati UtsavNiranjan Saket KPundir Rakesh KumarKoul YmberzalVohra VikasGandham Ravi KumarKumar Amod