Article
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
Science translational medicine - 22 May 2024
Sullivan Jeremy M, Bagnell Anna M, Alevy Jonathan, Avila Elvia Mena, Mihaljević Ljubica, Saavedra-Rivera Pamela C, Kong Lingling, Huh Jennifer S, McCray Brett A, Aisenberg William H, Zuberi Aamir R, Bogdanik Laurent, Lutz Cathleen M, Qiu Zhaozhu, Quinlan Katharina A, Searson Peter C, Sumner Charlotte J
Abstract excerpt
Blood-CNS barrier disruption is a hallmark of numerous neurological disorders, yet whether barrier breakdown is sufficient to trigger neurodegenerative disease remains unresolved. Therapeutic strategies to mitigate barrier hyperpermeability are also limited. Dominant missense mutations of the cation channel transient receptor potential vanilloid 4 (TRPV4) cause forms of hereditary motor neuron disease. To gain...
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