#GouldSyndrome

Col4a1 G1344D/+ or G394V/+🐭

👁️Retinal vascular defects
1⃣Ectopic NG2+ #Perciyte coverage of P7 retinal vessels
2⃣⏫SM α-actin+ or calponin+ 1-mo arteriolar zone
3⃣⏬2nd+3rd ordered arteriole# (1-mo)
+⏫CNS (Other organs?) TGFβ (How?)🤓

#MatrixBiol 2023
www.sciencedirect.com/science/arti...

#GouldSyndrome

Col4a1 G1344D/+🐭
Misfolded collagen protein #ERStress->
Age-related⏬RyR- & IP3R-mediated ER/SR Ca2+ signaling->
⏬#MyogenicTone in Cerebral artery

A fascinating paralog to recent ACTA2 R149C mutation-> #ERStress-> #Atherosclerosis story
#SciSignal 2023
www.science.org/doi/10.1126/...