Splice-site variant in ACSL5: a marker promoting opposing effect on cell viability and protein expression

Long-chain Acyl-CoA synthetases (ACSLs) activate fatty acids (FAs) by thioesterification with Coenzyme A (CoA), generating FA-CoAs. These products are essential for lipid metabolism and carcinogenesis. In previous study, we identified an intronic variant rs2256368:A>G, whose G allele promotes exo...

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Bibliographic Details
Published in:	European journal of human genetics : EJHG Vol. 27; no. 12; pp. 1836 - 1844
Main Authors:	Pérez-Núñez, Iván, Karaky, Mohamad, Fedetz, María, Barrionuevo, Cristina, Izquierdo, Guillermo, Matesanz, Fuencisla, Alcina, Antonio
Format:	Journal Article
Language:	English
Published:	England Nature Publishing Group 01-12-2019 Springer International Publishing
Subjects:	12-O-Tetradecanoylphorbol-13-acetate Acetic acid Astrocytoma - genetics Astrocytoma - pathology Carcinogenesis Cell culture Cell Survival - genetics Cell viability Coenzyme A Coenzyme A - genetics Coenzyme A Ligases - genetics Exons - genetics Fatty acids Genomes Genotypes HEK293 Cells Human Genome Project Humans Ionomycin Lipid metabolism Lipid Metabolism - genetics Lymphoblastoid cell lines Metabolic Diseases - genetics Metabolic Diseases - pathology Metabolic disorders Neoplasms - genetics Neoplasms - pathology Oligodendroglia - pathology Protein expression Protein Isoforms - genetics Proteins Reactive oxygen species Ribonucleic acid RNA RNA Splicing - genetics Transfection
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