{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["7"],"submitter":["Alfares A"],"funding":["King Abdullah International Medical Research Center"],"pubmed_abstract":["Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) is a coenzyme encoded by <i>ACADVL</i> that converts very-long-chain fatty acids into energy. This process is disrupted by c.65C > A; p.Ser22<sup>∗</sup> mutation. To clarify mechanisms by which this mutation leads to VLCAD deficiency, we evaluated differences in molecular and cellular functions between mesenchymal stem cells with normal and mutant VLCAD. Saudi Arabia have a high incidence of this form of mutation. Stem cells with mutant VLCAD were isolated from skin of two patients. Metabolic activity and proliferation were evaluated. The Same evaluation was repeated on normal stem cells introduced with same mutation by CRISPR. Mitochondrial depiction was done by electron microscope and proteomic analysis was done on patients' cells. M"],"journal":["Frontiers in cell and developmental biology"],"pagination":["365"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6979051"],"repository":["biostudies-literature"],"pubmed_title":["Proteomic and Molecular Assessment of the Common Saudi Variant in <i>ACADVL</i> Gene Through Mesenchymal Stem Cells."],"pmcid":["PMC6979051"],"pubmed_authors":["Al Balwi M","Masood A","AlGhamdi S","Alfadda A","Alfares A","Alrfaei BM","Alotaibi B","Almuaysib A","Mujamammi A","Ali R","Mohammad S","Al Mahri S","Alfadhel M","Albahkali S","Benabdelkamel H","Alanazi IO"],"additional_accession":[]},"is_claimable":false,"name":"Proteomic and Molecular Assessment of the Common Saudi Variant in <i>ACADVL</i> Gene Through Mesenchymal Stem Cells.","description":"Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) is a coenzyme encoded by <i>ACADVL</i> that converts very-long-chain fatty acids into energy. This process is disrupted by c.65C > A; p.Ser22<sup>∗</sup> mutation. To clarify mechanisms by which this mutation leads to VLCAD deficiency, we evaluated differences in molecular and cellular functions between mesenchymal stem cells with normal and mutant VLCAD. Saudi Arabia have a high incidence of this form of mutation. Stem cells with mutant VLCAD were isolated from skin of two patients. Metabolic activity and proliferation were evaluated. The Same evaluation was repeated on normal stem cells introduced with same mutation by CRISPR. Mitochondrial depiction was done by electron microscope and proteomic analysis was done on patients' cells. M","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019","modification":"2026-05-09T00:29:33.943Z","creation":"2025-05-31T23:08:50.32Z"},"accession":"S-EPMC6979051","cross_references":{"pubmed":["32010688"],"doi":["10.3389/fcell.2019.00365"]}}