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Updated: May 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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一个3'UTR插入在TMEM106B位置是一个候选因果变体,与FTLD-TDP风险增加有关

Augustine Chemparathy1, Yann Le Guen1, Yi Zeng1

  • 1From the Department of Neurology and Neurological Sciences (A.C., Y.L.G., N.K., L.T., M.B., I.S., V.W.H., T.W.-C., M.D.G.); Quantitative Sciences Unit (Y.L.G.), Department of Medicine; Department of Genetics (Y.Z., J.G., T.D.J., A.D.G., E.A.); Division of Cardiology (J.G., E.A.), Department of Medicine, Stanford University School of Medicine, CA; Neurogenomics and Informatics Center (C.Y., C.C.), Washington University School of Medicine, St. Louis, MO; Wu Tsai Neurosciences Institute (A.D.W., E.M.); Department of Psychology (A.D.W., E.M.); and Department of Epidemiology and Population Health (V.W.H.), Stanford University, CA.

Neurology. Genetics
|February 6, 2025
PubMed
概括

在TMEM106B附近的一种新的Alu插入是前叶痴呆症的潜在原因,其中包括TDP-43包容 (FTLD-TDP) 和阿尔茨海默病 (AD). 这种变异影响TMEM106B蛋白水平,而不是mRNA,这表明它.

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