Laminin β2 gene missense mutation produces endoplasmic reticulum stress in podocytes

YM Chen, Y Zhou, G Go, JT Marmerstein… - Journal of the …, 2013 - journals.lww.com
Mutations in the laminin β2 gene (LAMB2) cause Pierson syndrome, a severe congenital
nephrotic syndrome with ocular and neurologic defects. LAMB2 is a component of the
laminin-521 (α5β2γ1) trimer, an important constituent of the glomerular basement
membrane (GBM). The C321R-LAMB2 missense mutation leads to congenital nephrotic
syndrome but only mild extrarenal symptoms; the mechanisms underlying the development
of proteinuria with this mutation are unclear. We generated three transgenic mouse lines, in …