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Updated: Jun 5, 2025

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非洲血统的神经退行风险变体破坏了GBA1中的内部分支点

Pilar Álvarez Jerez1,2,3, Peter Wild Crea2, Daniel M Ramos1

  • 1Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

Nature structural & molecular biology
|December 12, 2024
PubMed
概括

在GBA1基因中,一种非洲祖先特有的帕金森病 (PD) 风险变体破坏了RNA拼接,导致葡萄糖脑蛋白酶活性降低和PD风险增加. 这一发现为代表性不足的人群提供了潜在的治疗目标.

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