File:ACSF3 pathophysiology overview.svg
Summary
| Description |
English: Schematic overview of the pathophysiology of combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency based on Tucci (2020) and Wehbe et al. (2019) with modifications and additions.
Sources: Tucci S. (2020). Brain metabolism and neurological symptoms in combined malonic and methylmalonic aciduria. Orphanet journal of rare diseases, 15(1), 27. https://doi.org/10.1186/s13023-020-1299-7 Wehbe, Z., Behringer, S., Alatibi, K., Watkins, D., Rosenblatt, D., Spiekerkoetter, U., & Tucci, S. (2019). The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism. Biochimica et biophysica acta. Molecular and cell biology of lipids, 1864(11), 1629–1643. https://doi.org/10.1016/j.bbalip.2019.07.012 Manoli, I. (2023). MMA and Cbl Disorders: Overview and Management. SIMD. https://www.simd.org/MBG-CCSS/2023-09-15/Manoli_MMA_Cbl_MBG_CCSS_09_15_2023_Final.pdfBowman, C. E., Rodriguez, S., Selen Alpergin, E. S., Acoba, M. G., Zhao, L., Hartung, T., Claypool, S. M., Watkins, P. A., & Wolfgang, M. J. (2017). The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency. Cell chemical biology, 24(6), 673–684.e4. https://doi.org/10.1016/j.chembiol.2017.04.009 Monteuuis, Geoffray; Suomi, Fumi; Kerätär, Juha M.; Masud, Ali J.; Kastaniotis, Alexander J. (2017-11-06). "A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3". Biochemical Journal. 474 (22): 3783–3797. doi:10.1042/bcj20170416. PMID 28986507. |
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| Source | Own work | |||
| Author | Abvdj | |||
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