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2019 2
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Page 1
Unraveling the spatial organization and development of human thymocytes through integration of spatial transcriptomics and single-cell multi-omics profiling.
Li Y, Li H, Peng C, Meng G, Lu Y, Liu H, Cui L, Zhou H, Xu Z, Sun L, Liu L, Xiong Q, Sun B, Jiao S. Li Y, et al. Nat Commun. 2024 Sep 6;15(1):7784. doi: 10.1038/s41467-024-51767-y. Nat Commun. 2024. PMID: 39237503 Free PMC article.
Specifically, we characterize dynamic changes in cell types and critical markers, identifying ELOVL4 as a mediator of CD4(+) T cell positive selection in the cortex. Utilizing the mapping function of TSO-his, we reconstruct thymic spatial architecture at single-cell resolu …
Specifically, we characterize dynamic changes in cell types and critical markers, identifying ELOVL4 as a mediator of CD4(+) T cell p …
ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.
Gyening YK, Chauhan NK, Tytanic M, Ea V, Brush RS, Agbaga MP. Gyening YK, et al. J Lipid Res. 2023 Jan;64(1):100317. doi: 10.1016/j.jlr.2022.100317. Epub 2022 Dec 1. J Lipid Res. 2023. PMID: 36464075 Free PMC article.
The FA Elongase-4 (ELOVL4) enzyme mediates biosynthesis of both very long chain (VLC)-PUFAs and VLC-saturated FA (VLC-SFAs). ...To understand how these mutations alter VLC-PUFA and VLC-SFA biosynthesis, we expressed WT-ELOVL4, L168F, and W246G ELOVL4 variants …
The FA Elongase-4 (ELOVL4) enzyme mediates biosynthesis of both very long chain (VLC)-PUFAs and VLC-saturated FA (VLC-SFAs). ...To un …
Generation of novel lipid metabolism-based signatures to predict prognosis and immunotherapy response for colorectal adenocarcinoma.
Wang Y, Yao J, Zhang Z, Wei L, Wang S. Wang Y, et al. Sci Rep. 2024 Jul 26;14(1):17158. doi: 10.1038/s41598-024-67549-x. Sci Rep. 2024. PMID: 39060344 Free PMC article.
Next, 12 hub genes (PIK3CG, ALOX5AP, PIK3R5, TNFAIP8L2, DPEP2, PIK3CD, PIK3R6, GGT5, ELOVL4, PTGIS, CYP7B1 and PRKD1) were found within green and yellow modules correlated with EMT, stemness and ICs. ...
Next, 12 hub genes (PIK3CG, ALOX5AP, PIK3R5, TNFAIP8L2, DPEP2, PIK3CD, PIK3R6, GGT5, ELOVL4, PTGIS, CYP7B1 and PRKD1) were found with …
The expression of ELOVL4, repressed by MYCN, defines neuroblastoma patients with good outcome.
Rugolo F, Bazan NG, Calandria J, Jun B, Raschellà G, Melino G, Agostini M. Rugolo F, et al. Oncogene. 2021 Sep;40(38):5741-5751. doi: 10.1038/s41388-021-01959-3. Epub 2021 Jul 31. Oncogene. 2021. PMID: 34333551
In keeping, ELOVL4 positively regulates neuronal differentiation and lipids droplets accumulation in neuroblastoma cells. At the molecular level we found that MYCN binds to the promoter of ELOVL4 in close proximity to the histone deacetylases HDAC1, HDAC2, and the t …
In keeping, ELOVL4 positively regulates neuronal differentiation and lipids droplets accumulation in neuroblastoma cells. At the mole …
Utilizing integrated bioinformatics and machine learning approaches to elucidate biomarkers linking sepsis to fatty acid metabolism-associated genes.
Tan Y, Ma Z, Qian W. Tan Y, et al. Sci Rep. 2024 Nov 22;14(1):28972. doi: 10.1038/s41598-024-80550-8. Sci Rep. 2024. PMID: 39578562 Free PMC article.
The study identified 13 sepsis-associated FAMGs, including ABCD2, ACSL3, ACSM1, ACSS1, ACSS2, ACOX1, ALDH9A1, ACACA, ACACB, FASN, OLAH, PPT1, and ELOVL4. As demonstrated by functional enrichment analysis results, these genes played key roles in several critical biological …
The study identified 13 sepsis-associated FAMGs, including ABCD2, ACSL3, ACSM1, ACSS1, ACSS2, ACOX1, ALDH9A1, ACACA, ACACB, FASN, OLAH, PPT1 …
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Alabdulrazzaq F, Alanzi T, Al-Balool HH, Gardham A, Wakeling E, Leitch HG, AlSayed M, Abdulrahim M, Aladwani A, Romito A, Kampe K, Ferdinandusse S, Aboelanine AH, Abdullah A, Alwadani A, Bastaki L, Vaz FM, Bertoli-Avella AM, Marafi D. Alabdulrazzaq F, et al. Mol Genet Genomic Med. 2023 Dec;11(12):e2256. doi: 10.1002/mgg3.2256. Epub 2023 Aug 18. Mol Genet Genomic Med. 2023. PMID: 37592902 Free PMC article.
VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are associated with three Mendelian disorders: autosomal dominant (AD) Stargardt-like macular dystrophy type 3, AD spinocerebellar ataxia, and autosomal recessive disorder congenital ic …
VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are associated with three Mendelian disorders …
Genome-wide association study of brain arteriolosclerosis.
Shade LM, Katsumata Y, Hohman TJ, Nho K, Saykin AJ, Mukherjee S, Boehme KL, Kauwe JS, Farrer LA, Schellenberg GD, Haines JL, Mayeux RP, Schneider JA, Nelson PT, Fardo DW. Shade LM, et al. J Cereb Blood Flow Metab. 2022 Aug;42(8):1437-1450. doi: 10.1177/0271678X211066299. Epub 2022 Feb 14. J Cereb Blood Flow Metab. 2022. PMID: 35156446 Free PMC article.
The rs2603462 lead variant colocalized with ELOVL4 expression in the cerebellum (posterior probability = 90.1%). Suggestive associations were also found near SORCS1 and SORCS3. ...
The rs2603462 lead variant colocalized with ELOVL4 expression in the cerebellum (posterior probability = 90.1%). Suggestive associati …
The Elovl4 Spinocerebellar Ataxia-34 Mutation 736T>G (p.W246G) Impairs Retinal Function in the Absence of Photoreceptor Degeneration.
Agbaga MP, Stiles MA, Brush RS, Sullivan MT, Machalinski A, Jones KL, Anderson RE, Sherry DM. Agbaga MP, et al. Mol Neurobiol. 2020 Nov;57(11):4735-4753. doi: 10.1007/s12035-020-02052-8. Epub 2020 Aug 11. Mol Neurobiol. 2020. PMID: 32780351 Free PMC article.
However, the relationship between ELOVL4 mutations, its VLC-PUFA and VLC-SFA products, and specific neurological symptoms remains unclear. ...Furthermore, these findings suggest that the tissue specificity and symptoms associated with disease-causing ELOVL4 mutation …
However, the relationship between ELOVL4 mutations, its VLC-PUFA and VLC-SFA products, and specific neurological symptoms remains unc …
Mitochondrial lipidome's fatty acid profile and peroxidation index are programmed tissue-specific traits.
Mota-Martorell N, Fernàndez-Bernal A, Sol J, Santacreu-Vilaseca M, Juanes-Casado A, Portero-Otín M, Jové M, Pamplona R. Mota-Martorell N, et al. Redox Biol. 2025 Oct;86:103850. doi: 10.1016/j.redox.2025.103850. Epub 2025 Aug 30. Redox Biol. 2025. PMID: 40915109 Free PMC article.
Our findings demonstrate that a) mitochondrial lipotype is determined by the basic type of tissue instead of the germ layer origin; b) mitochondrial fatty acid profiles define the tissue; c) myristic acid (FA14:0) and docosapentaenoic acid n-6 (22:5n-6) act as biomarkers for glob …
Our findings demonstrate that a) mitochondrial lipotype is determined by the basic type of tissue instead of the germ layer origin; b) mitoc …
Novel variants associated with Stargardt disease in Chinese patients.
Hu F, Gao F, Li J, Xu P, Wang D, Chen F, Zhang S, Wu J. Hu F, et al. Gene. 2020 Sep 5;754:144890. doi: 10.1016/j.gene.2020.144890. Epub 2020 Jun 10. Gene. 2020. PMID: 32534057
PURPOSE: Stargardt disease (STGD) is the most frequent cause of hereditary macular dystrophy in childhood. Variants in the ABCA4, ELOVL4, PROM1, BEST1, and PRPH2 genes have been detected in patients with autosomal recessive or dominant STGD. ...CONCLUSION: By panel-based N …
PURPOSE: Stargardt disease (STGD) is the most frequent cause of hereditary macular dystrophy in childhood. Variants in the ABCA4, ELOVL4 …
29 results