Immature Acta2 R179C/+ smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS

Immature Acta2 R179C/+ smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS

Abstract ACTA2 pathogenic variants altering arginine 179 cause childhood-onset strokes due to moyamoya disease (MMD)-like occlusions of the distal internal carotid arteries, but the mechanisms of pathogenesis are unknown and no preventive treatments exist. Here we show that Acta2 R179C/+ smooth musc...

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Main Authors: Anita Kaw, Suravi Majumder, Jose E. Esparza Pinelo, Ting Wu, Zbigniew Starosolski, Zhen Zhou, Albert J. Pedroza, Xueyan Duan, Kaveeta Kaw, Angie D. Gonzalez, Ripon Sarkar, Michael P. Fischbein, Philip L. Lorenzi, Lin Tan, Sara A. Martinez, Iqbal Mahmud, Laxman Devkota, L. Maximilian Buja, Heinrich Taegtmeyer, Ketan B. Ghaghada, Sean P. Marrelli, Callie S. Kwartler, Dianna M. Milewicz
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-61042-3
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https://doi.org/10.1038/s41467-025-61042-3

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