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Updated: Jan 23, 2026

Mapping Dysfunctional Protein-Protein Interactions in Disease
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由FERM域突变引起的FRMD3的结构性不稳定会通过寡头细胞功能障碍引起低髓化疾病

Diksha1, Abhishek Kumar2, Smita Saha3

  • 1All India Institute of Medical Sciences, Rishikesh 249203, India.

ACS chemical neuroscience
|January 21, 2026
PubMed
概括

一种新型的FRMD3基因变异通过破坏蛋白质的稳定性,导致聚合和小寡腺细胞功能受损,从而导致低髓化疾病. 这一发现将FRMD3确定为神经发育障碍的新候选基因.

关键词:
这是一个FERM域名.这就是FRMD3的原因.低黄性疾病是一种低黄性疾病.寡细胞功能障碍 寡细胞功能障碍蛋白质聚合蛋白质的聚合物

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