Article

Augmenting Mitochondrial Respiration in Immature Smooth Muscle Cells with an ACTA2 Pathogenic Variant Mitigates Moyamoya-like Cerebrovascular Disease

2023-10-12

Abstract excerpt

<title>Abstract</title> <p><italic>ACTA2</italic> pathogenic variants altering arginine 179 cause childhood-onset strokes due to moyamoya disease (MMD)-like occlusion of the distal internal carotid arteries. A smooth muscle cell (SMC)-specific knock-in mouse model (<italic>Acta2<sup>SMC-R179C/+</sup></italic>) inserted the mutation into 67% of aortic SMCs, whereas explanted SMCs were uniformly heterozygous. <ital...

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Literature Corpus work: df407e72-7ac8-5036-b000-24c26002e94e
DOI: 10.21203/rs.3.rs-3304679/v1

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