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最常见的致病性PRKN替代物的结构和功能表征 p.R275WW

Bernardo A Bustillos1, Liam T Cocker1, Mathew A Coban1

  • 1Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA.

Cells
|September 27, 2024
PubMed
概括

帕金 (PRKN) 基因中的p.R275W突变通过降低PRKN蛋白水平,导致早期发病的帕金森病. 这种功能丧失会损害线粒体的降解,影响疾病的进展.

关键词:
标签:PINK1PINK1PINK1PINK1PINK1这就是PRKNN.帕金森病是帕金森病的一种疾病.线粒细胞衰变 (mitophagy) 是一种神经衰变的过程.帕金斯是一个停车场.在任何地方都是无处不在的.

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