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Updated: Jan 20, 2026

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Published on: March 10, 2023

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在GBA1 E365K,N409S和L483P异构体突变载体中的血葡萄糖素

Julian Agin-Liebes1, Alexander Haimovich1, Rachel Griep1

  • 1Department of Neurology, Columbia University Irving Medical Center, New York, USA.

Movement disorders : official journal of the Movement Disorder Society
|January 19, 2026
PubMed
概括

在携带GBA1变种N409S,E365K和L483P的携带者中,血葡萄糖素水平升高. 这一发现证实了E365K载体的葡萄糖大脑酶功能降低,无论帕金森病的状态如何.

关键词:
在 GBA1 中,GBA1 是 GBA1 的代名词.帕金森病的疾病.葡萄糖化物化物化物

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