The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1,Alzheimer's & Dementia

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The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1
Alzheimer's & Dementia ( IF 13.0 ) Pub Date : 2024-11-19 , DOI: 10.1002/alz.14339
Lei Liu _{1,

2} , Stephanie A Schultz _{2,

3} , Adriana Saba ₁ , Hyun-Sik Yang _{1,

2} , Amy Li ₁ , Dennis J Selkoe _{1,

2} , Jasmeer P Chhatwal _{1,

2,

3}

Affiliation

Though recognized as a potential cause of autosomal dominant Alzheimer's disease, the pathogenicity of many PSEN2 variants remains uncertain. We compared amyloid beta (Aβ) production across all missense PSEN2 variants in the AlzForum database and, when possible, to corresponding PSEN1 variants.

中文翻译：

PSEN2 变体的致病性与 Aβ 的产生和与 PSEN1 的同源性有关

尽管被认为是常染色体显性遗传性阿尔茨海默病的潜在原因，但许多 PSEN2 变体的致病性仍不确定。我们比较了 AlzForum 数据库中所有错义 PSEN2 变体的淀粉样蛋白 β （Aβ）产生，并在可能的情况下与相应的 PSEN1 变体进行了比较。

更新日期：2024-11-19

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