Ask about this productRelated genes to: RABEPK Blocking Peptide
- Gene:
- RABEPK NIH gene
- Name:
- Rab9 effector protein with kelch motifs
- Previous symbol:
- -
- Synonyms:
- RAB9P40, bA65N13.1
- Chromosome:
- 9q33.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-06-24
- Date modifiied:
- 2016-10-05
Related products to: RABEPK Blocking Peptide
Related articles to: RABEPK Blocking Peptide
- We aimed to assess the role of traditional cardiovascular risk factors on carotid artery intima-media thickness (IMT) and proteins associated with IMT. IMT was measured in 50,704 participants from the UK Biobank. Plasma levels of 2923 proteins were analyzed in 6328 individuals. Mendelian randomization (MR) analyses used genetic data on IMT, proteins, and risk factors. Observational analyses showed positive associations of LDL-cholesterol, body mass index (BMI), diabetes, and systolic blood pressure (SBP) with IMT, while HDL-cholesterol was inversely related. MR analysis confirmed causality for LDL, BMI, diabetes, but not HDL. Of 63 proteins observationally linked to IMT, 17 were replicated externally. Five proteins (BCAM, NTproBNP/NPPB, RABEPK, ACAN, FN1) were associated with IMT in MR, with RABEPK showing concordant directional relationships. MR supports causal links between LDL, BMI, diabetes, SBP, and IMT. RABEPK emerged as a potential therapeutic target, warranting further investigation. - Source: PubMed
Publication date: 2025/07/02
Lind LarsZheng Rui - Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by important clinical and genetic heterogeneity. Recent studies suggested an overlap between ASD and Parkinson's disease (PD) in terms of clinical manifestation and underlying genetic defects. Our aim was to assess using a chromosomal microarray assay the frequency of rare exonic deletions that overlap with PD associated genes in a pediatric ASD group. Three hundred and five children diagnosed with ASD were enrolled in a study focused on deep phenotyping and genomic profiling by chromosomal microarrays. In the investigated group, four children with ASD harbored deletions encompassing genes involved in Mendelian forms of PD or contributing to PD risk. Deletions of Parkin RBR E3 ubiquitin protein ligase ( and synuclein alpha interacting protein () were found in one patient, each; two other patients showed intragenic deletions of Rab9 effector protein with kelch motifs (). Our study found that deletions involving genes associated with PD are rare events, as we identified approximately 1% in the ASD cohort of children. Our data adds to the previous reports of rare genomic imbalances of PD associated genes in ASD, further supporting the hypothesis that these conditions might share molecular mechanisms of pathogenesis. - Source: PubMed
Publication date: 2025/06/04
Erbescu AlinaPapuc Sorina MihaelaBudișteanu MagdalenaDobre MariaIliescu CatrinelHinescu Mihail EugenArghir AuroraNeagu Monica - Opioid misuse, addiction, and associated overdose deaths remain global public health crises. Despite the tremendous need for pharmacological treatments, current options are limited in number, use, and effectiveness. Fundamental leaps forward in our understanding of the biology driving opioid addiction are needed to guide development of more effective medication-assisted therapies. This Review focuses on the omics-identified biological features associated with opioid addiction. Recent GWAS have begun to identify robust genetic associations, including variants in OPRM1, FURIN, and the gene cluster SCAI/PPP6C/RABEPK. An increasing number of omics studies of postmortem human brain tissue examining biological features (e.g., histone modification and gene expression) across different brain regions have identified broad gene dysregulation associated with overdose death among opioid misusers. Drawn together by meta-analysis and multi-omic systems biology, and informed by model organism studies, key biological pathways enriched for opioid addiction-associated genes are emerging, which include specific receptors (e.g., GABAB receptors, GPCR, and Trk) linked to signaling pathways (e.g., Trk, ERK/MAPK, orexin) that are associated with synaptic plasticity and neuronal signaling. Studies leveraging the agnostic discovery power of omics and placing it within the context of functional neurobiology will propel us toward much-needed, field-changing breakthroughs, including identification of actionable targets for drug development to treat this devastating brain disease. - Source: PubMed
Publication date: 2024/10/15
Johnson Eric OFisher Heidi SSullivan Kyle ACorradin OliviaSanchez-Roige SandraGaddis Nathan CSami Yasmine NTownsend AliceTeixeira Prates EricaPavicic MirkoKruse PeterChesler Elissa JPalmer Abraham ATroiani VanessaBubier Jason AJacobson Daniel AMaher Brion S - Colorectal cancer (CRC) ranks as the third most commonly diagnosed cancer in both females and males, underscoring the need for the identification of effective biomarkers. - Source: PubMed
Publication date: 2024/04/25
Salehinia NeginMohammad Al-Mosawi Aseel KamilAl-Moussawi Duaa KamelSadeghi Ensieh SaghebZamani AtefehMahdevar Mohammad - Bipolar disorder and metabolic syndrome are both associated with the expression of immune disorders. The current study aims to find the effective diagnostic candidate genes for bipolar affective disorder with metabolic syndrome. - Source: PubMed
Publication date: 2023/10/04
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