NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature,Neuropathology and Applied Neurobiology

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NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature
Neuropathology and Applied Neurobiology ( IF 4.0 ) Pub Date : 2021-07-23 , DOI: 10.1111/nan.12751
Gido Gravesteijn ₁ , Remco J Hack ₁ , Aat A Mulder ₂ , Minne N Cerfontaine ₁ , Remco van Doorn ₃ , Ingrid M Hegeman ₄ , Carolina R Jost ₂ , Julie W Rutten ₁ , Saskia A J Lesnik Oberstein ₁

Affiliation

CADASIL, the most prevalent hereditary cerebral small vessel disease, is caused by cysteine-altering NOTCH3 variants (NOTCH3^cys) leading to vascular NOTCH3 protein aggregation. It has recently been shown that variants located in one of NOTCH3 protein epidermal growth-factor like repeat (EGFr) domains 1–6, are associated with a more severe phenotype than variants located in one of the EGFr domains 7–34. The underlying mechanism for this genotype–phenotype correlation is unknown. The aim of this study was to analyse whether NOTCH3^cys variant position is associated with NOTCH3 protein aggregation load.

中文翻译：

NOTCH3 变异位置与 CADASIL 脉管系统中的 NOTCH3 聚集负荷相关

CADASIL 是最常见的遗传性脑小血管疾病，由改变半胱氨酸的NOTCH3变异体 ( NOTCH3 ^cys ) 引起，导致血管 NOTCH3 蛋白聚集。最近表明，位于 NOTCH3 蛋白表皮生长因子样重复 (EGFr) 结构域 1-6 之一的变体与位于 EGFr 结构域 7-34 之一的变体相比，与更严重的表型相关。这种基因型-表型相关性的潜在机制尚不清楚。本研究的目的是分析NOTCH3 ^cys变异位置是否与 NOTCH3 蛋白聚集负荷相关。

更新日期：2021-07-23

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