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bioRxiv · 10.1101/627653

Targetable cellular signaling events drive arterial rupture in knock-in mouse models of vascular Ehlers-Danlos Syndrome

Bowen, C. J.·Giadrosic, J. F. C.·Rykiel, G.·Burger, Z.·Davis, E. C.·Helmers, M. R.·Gallo MacFarlane, E.·Dietz, H. C.
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Abstract

Introduction Introduction Main Methods Author contributions Competing Interests Data availability References Vascular Ehlers-Danlos Syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by heterozygous mutations in the COL3A1 gene1. Currently, loss of structural integrity of the extracellular matrix is believed to drive the signs and symptoms of this condition, including spontaneous arterial dissection and/or rupture, the major cause of mortality2-4.\n\nUsing novel mouse models of vEDS that carry heterozygous Col3a1 glycine substitutions, we show that signaling abnormalities in the PLC/IP3/PKC/ERK pathway (Phospholipase C/Inositol 1,4,5-triphosphate/Protein Kinase C/Extrace ...

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Bowen, C. J., Giadrosic, J. F. C., Rykiel, G., Burger, Z., Davis, E. C., Helmers, M. R., Gallo MacFarlane, E., Dietz, H. C.. 2019-05-08. Targetable cellular signaling events drive arterial rupture in knock-in mouse models of vascular Ehlers-Danlos Syndrome. https://doi.org/10.1101/627653

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