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Updated: Jun 24, 2025

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在CLCN7中获得功能变异会导致低颜色和溶酶体储存疾病

Maya M Polovitskaya1, Tanushka Rana2, Kurt Ullrich3

  • 1Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.

The Journal of biological chemistry
|June 5, 2024
PubMed
概括

在CLCN7基因中获得功能突变会导致HOD综合征,导致严重的溶酶体病理,与骨质疏松症不同. 这些突变改变了化物通道ClC-7的活性,导致组织中真空孔的扩大.

关键词:
化物运输是为了运输.电力生理学 电力生理学门 门 门 门 这是什么意思遗传病是一种遗传性疾病.神经发育障碍是一种神经发育障碍.神经系统疾病 神经系统疾病器官细胞的pH稳定性同居.器官巨变症是什么意思补丁紧固件 补丁紧固件在真空中,真空的酸性化.

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