DHCR7

Shuya Miyazaki1, Nobuyuki Shimizu2, Hiroaki Miyahara3

  • 1Department of Cell Biology, Oita University Faculty of Medicine, Yufu, Oita, Japan; Department of Respiratory Medicine and Infectious Diseases, Oita University Faculty of Medicine, Yufu, Oita, Japan.

概括

史密斯-莱姆利-奥皮茨综合征 (SLOS) 是由DHCR7突变引起的,导致胆固醇缺乏和7-脱胆固醇积累. 斑马鱼模型揭示了神经元平衡的破坏,包括神经髓和自的受损,为SLOS的发病提供了洞察力.

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