对于特定的婴儿和青少年CTNS突变在基于PTEC的添加回模型中的残留囊运输活动

Louise Medaer1, Dries David1, Maxime Smits1,2

  • 1Laboratory of Molecular Virology and Gene Therapy, Department of Pharmacological and Pharmaceutical Sciences, Faculty of Medicine, KU Leuven, 3000 Leuven, Belgium.

Cells
|April 12, 2024
PubMed
概括

囊病是一种罕见的遗传性疾病. 这项研究表明,即使是突变的CTNS蛋白质也可以在细胞模型中恢复囊运输,这表明了针对囊病患者个性化治疗的潜力.

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