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Updated: Jan 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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显示核细胞质分布变化的PTBP1变体是导致神经发育障碍的原因,其中包括骨发育不良

Aymeric Masson1, Julien Paccaud1, Martina Orefice2

  • 1Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire - Inserm UMR1231 équipe GAD, Dijon, France.

The Journal of clinical investigation
|September 18, 2025
PubMed
概括

聚皮里米丁通路结合蛋白1 (PTBP1) 的致病变体因改变其细胞质局部和RNA稳定性而导致神经发育和骨疾病. 这些发现揭示了PTBP1在人类疾病中的新角色.

关键词:
骨的发育 骨的发育发展发展发展 发展发展遗传性疾病是一种遗传性疾病.遗传学 是一个遗传学.处理RNA处理RNA的过程

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