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一个ANXA11的P93S变体失调了TDP-43并导致皮质基底综合征

Allison Snyder¹, Veronica H Ryan², James Hawrot¹

¹Neurogenetics Branch, National Institute of Neurological Disorders and Stroke.

Research square

|October 27, 2023

概括

一种新的Annexin A11 (ANXA11) 变种,P93S,导致皮质基综合征,并揭示了微质中的免疫失调,扩大了ANXA11疾病谱.

科学领域:

神经遗传学神经遗传学
细胞生物学细胞生物学
免疫学免疫学免疫学

背景情况:

不确定意义的变异 (VUS) 在神经退行性疾病的基因测试中构成挑战.
素A11 (ANXA11) 突变与肌缩性侧面硬化和前性痴呆有关,导致蛋白质聚合和TDP-43错误定位.
确定VUS在疾病中的作用需要强大的功能性和多核性特征.

结论:

鉴定了一种与皮质基底综合征相关的新型致病性ANXA11变体 (P93S).
扩大了ANXA11相关的神经退行性疾病的临床谱.
在ANXA11病理生理学中涉及神经元和微质功能障碍,特别是微质中的免疫路径.
证明了iPSC衍生模型在变异注释和因果关系确定方面的实用性.

关键词:

附录A11 附录A11 附录A11 附录A11 附录A11 附录A11 在TDP-43中使用.皮质基底综合征是什么意思不确定意义的变种.

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Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...