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10个ACADM误解突变对人类中链乙烯-Coa脱酶的功能和结构影响

Catarina A Madeira1, Carolina Anselmo1, João M Costa2

  • 1Research Institute for Medicines, Faculty of Pharmacy, Universidade de Lisboa, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal.

Biochimica et biophysica acta. Molecular basis of disease
|May 31, 2023
PubMed
概括

中链乙基-CoA脱酶 (MCAD) 缺乏与ACADM突变有关. 变种会损害flavin adenine dinucleotide (FAD) 的结合,影响酶的稳定性和功能,从而导致MCADD表型异质.

关键词:
引起疾病的突变.电子转移黄蛋白是一种电子转移黄蛋白.弗拉文腺因二核酸二核酸产生的代谢障碍 产生的代谢障碍中链乙-CoA脱酶缺乏症蛋白质的错误折叠 蛋白质的错误折叠

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