ArticleScientific reports2020
NBEAL1 controls SREBP2 processing and cholesterol metabolism and is a susceptibility locus for coronary artery disease.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
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- Smoking Status and Type 2 Diabetes, and Cardiovascular Disease: A Comprehensive Analysis of Shared Genetic Etiology and Causal Relationship.Frontiers in endocrinology · 2022Pooled it
- SREBF2 promotes mitophagy and protects against ferroptosis via Cav-1-regulated PINK1/Parkin signaling in ischemic heart failure.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Histomorphologic spectrum and genetic features of esophageal carcinomas with submucosal gland differentiation.Virchows Archiv : an international journal of pathology · 2026Article
- Natural variation in transplacental transfer efficiency exposes distinct transcriptional network architectures of PFAS effects on birth weight and gestational age.bioRxiv : the preprint server for biology · 2026Article
- Neuroimaging-derived brain endophenotypes link molecular mechanisms to Alzheimer's disease and aging.medRxiv : the preprint server for health sciences · 2025Article
- Custom Gene Panel Analysis Identifies Novel Polymorphisms Associated with Clopidogrel Response in Patients Undergoing Percutaneous Coronary Intervention with Stent.International journal of molecular sciences · 2025Article
- High-Specificity Spatiotemporal Cholesterol Detection by Quadrature Phase-Shifted Polarization Stimulated Raman Imaging.Angewandte Chemie (International ed. in English) · 2025Article
- Decoding immune cell dynamics in ischemic stroke: insights from single-cell RNA sequencing analysis.Frontiers in aging neuroscience · 2025Article
- BEACH domain proteins function as cargo-sorting adaptors in secretory and endocytic pathways.The Journal of cell biology · 2024Article
- Article
- Cholesterol lowering depletes atherosclerotic lesions of smooth muscle cell-derived fibromyocytes and chondromyocytes.Nature cardiovascular research · 2024Article
- The roles of nuclear receptors in cholesterol metabolism and reverse cholesterol transport in nonalcoholic fatty liver disease.Hepatology communications · 2024Review
- Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.Nature medicine · 2023Article
- Transcriptome-wide association study reveals novel susceptibility genes for coronary atherosclerosis.Frontiers in cardiovascular medicine · 2023Article
- Proteomics analysis of coronary blood microparticles in patients with acute myocardial infarction.Cardiology journal · 2023Article
- Overcharged lipid metabolism in mechanisms of antitumor byInternational journal of oncology · 2023Article
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- Assessing genetic diversity and defining signatures of positive selection on the genome of dromedary camels from the southeast of the Arabian Peninsula.Frontiers in veterinary science · 2023Article
- Identifying causal genes for stroke via integrating the proteome and transcriptome from brain and blood.Journal of translational medicine · 2022Article
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
Dysregulated cholesterol homeostasis promotes the pathology of atherosclerosis, myocardial infarction and strokes. Cellular cholesterol is mainly regulated at the transcriptional level by SREBP2, but also through uptake of extracellular cholesterol from low density lipoproteins (LDL) via expression of LDL receptors (LDLR) at the cell surface. Identification of the mechanisms involved in regulation of these processes are thus key to understand the pathology of coronary artery disease. Here, we identify the large and poorly characterized BEACH domain protein Neurobeachin-like (NBEAL) 1 as a Golgi- associated protein required for regulation of cholesterol metabolism. NBEAL1 is most abundantly expressed in arteries. Genetic variants in NBEAL1 are associated with decreased expression of NBEAL1 in arteries and increased risk of coronary artery disease in humans. We show that NBEAL1 regulates cholesterol metabolism by modulating LDLR expression in a mechanism involving interaction with SCAP and PAQR3 and subsequent SREBP2-processing. Thus, low expression of NBEAL1 may lead to increased risk of coronary artery disease by downregulation of LDLR levels.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.