Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers
Author:
Funder
Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Molecular Biology,Atomic and Molecular Physics, and Optics,Biophysics
Link
https://link.springer.com/content/pdf/10.1007/s10867-023-09650-2.pdf
Reference58 articles.
1. Soler-Alfonso, C., M.J. Bennett, M.J., Ficicioglu, C.: Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives. Res. Rep. Neonatol. (2016). https://doi.org/10.2147/RRN.S60617
2. Ghosh, S., Kruger, C., Wicks, S., Simon, J., Kumar, KJ., Johnson W.D., Mynatt R.L., Noland R.C., Richards B.K.: Short chain acyl-CoA dehydrogenase deficiency and short-term high-fat diet perturb mitochondrial energy metabolism and transcriptional control of lipid-handling in liver. Nutr. Metab. (2016). https://doi.org/10.1186/s12986-016-0075-0
3. Battaile, K.P., Nguyen, T.V., Vockley J., Kim, J-J.P.: Structures of isobutyryl-coa dehydrogenase and enzyme-product complex comparison with isovaleryl-and short-chain acyl-coa dehydrogenases. J. Biol. Chem. (2004). https://doi.org/10.1074/jbc.M400034200
4. Bross, P., Jespersen, C., Jensen T.G., Andresen, B.S., Kristensen M.J., Winter, V., Nandy, A., Kräutle, F.,Ghisla S., Bolundi, L.: Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. J. Biol. Chem. (1995). https://doi.org/10.1074/jbc.270.17.10284
5. Placzek, S., Schomburg,I., Chang, A., Jeske, L., Ulbrich, M., Tillack, J., Schomburg, D.: BRENDA in 2017: new perspectives and new tools in BRENDA. Nucleic Acids Res. (2016). https://doi.org/10.1093/nar/gkw952
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