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Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo models

BackgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is one of the most common inherited cerebral small vessel diseases caused by the NOTCH3 gene mutation. This mutation leads to the accumulation of NOTCH3 extracellular domain protein (NOTCH3...

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Principais autores: Zhenping Gong, Wan Wang, Ying Zhao, Yadan Wang, Ruihua Sun, Haohan Zhang, Fengyu Wang, Yaru Lu, Jiewen Zhang
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2024-12-01
Serier:Frontiers in Molecular Neuroscience
Fag:
CADASIL
cysteine-sparing NOTCH3 mutation
NOTCH3 ECD
in vitro cell model
in vivo knock-in mice model
Online adgang:https://www.frontiersin.org/articles/10.3389/fnmol.2024.1391040/full
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