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Updated: Jun 27, 2025

Enrichment of Mammalian Tissues and Xenopus Oocytes with Cholesterol
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固醇O-酸转移酶1 (SOAT1) 是尼曼-皮克病的基因修饰剂,C1型

Nicole Y Farhat1, Derek Alexander1, Kyli McKee1

  • 1Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

International journal of molecular sciences
|April 27, 2024
PubMed
概括

在SOAT1中,一种特定的基因变异 (rs1044925 C-基因) 可能通过影响胆固醇运输来加剧尼曼-皮克病型C1 (NPC1). 这一发现支持SOAT1抑制剂作为一种潜在的NPC1疗法.

关键词:
ACAT1 ACAT1 的意思是 ACAT1.在NPC1中,NPC1是NPC1.尼曼 - 皮克病是尼曼 - 皮克病.在SOAT1中,SOAT1是SOAT1,SOAT1是SOAT1.基因修饰剂 基因修饰剂 基因修饰剂神经退行症的神经退行症类固醇O-转移酶1 1类型C1 类型C1

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