Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect

Microvasculopathy in spinal muscular atrophy is driven by a reversible autonomous endothelial cell defect

Spinal muscular atrophy (SMA) is a neuromuscular disorder due to degeneration of spinal cord motor neurons caused by deficiency of the ubiquitously expressed SMN protein. Here, we present a retinal vascular defect in patients, recapitulated in SMA transgenic mice, driven by failure of angiogenesis a...

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Bibliographic Details
Main Authors: Haiyan Zhou, Ying Hong, Mariacristina Scoto, Alison Thomson, Emma Pead, Tom MacGillivray, Elena Hernandez-Gerez, Francesco Catapano, Jinhong Meng, Qiang Zhang, Gillian Hunter, Hannah K. Shorrock, Thomas K. Ng, Abedallah Hamida, Mathilde Sanson, Giovanni Baranello, Kevin Howell, Thomas H. Gillingwater, Paul Brogan, Dorothy A. Thompson, Simon H. Parson, Francesco Muntoni
Format: Article
Language:English
Published: American Society for Clinical Investigation 2022-11-01
Series:The Journal of Clinical Investigation
Subjects:
Neuroscience
Online Access:https://doi.org/10.1172/JCI153430

Internet

https://doi.org/10.1172/JCI153430

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