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Studying Protein Function and the Role of Altered Protein Expression by Antibody Interference and Three-dimensional Reconstructions
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由ALDH5A1变体引起的结构和功能蛋白质损伤的表型相关物

Itay Tokatly Latzer1,2, Jean-Baptiste Roullet3, Samuele Cesaro4

  • 1Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.

Human genetics
|November 14, 2023
PubMed
概括

黄半脱酶缺乏症 (SSADHD) 的严重程度与ALDH5A1酶蛋白质的数量和类型相关. 蛋白质稳定性,折叠或寡合化受损预测在这种遗传代谢障碍中比没有功能性酶更好的结果.

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