Evidence for activation of the unfolded protein response in collagen IV nephropathies
M Pieri, C Stefanou, A Zaravinos… - Journal of the …, 2014 - journals.lww.com
Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive
collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These
nephropathies invariably present with microscopic hematuria and frequently progress to
proteinuria and CKD or ESRD during long-term follow-up. Nonetheless, the exact molecular
mechanisms by which these mutations exert their deleterious effects on the glomerulus
remain elusive. We hypothesized that defective trafficking of the COL4A3 chain causes a …
collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These
nephropathies invariably present with microscopic hematuria and frequently progress to
proteinuria and CKD or ESRD during long-term follow-up. Nonetheless, the exact molecular
mechanisms by which these mutations exert their deleterious effects on the glomerulus
remain elusive. We hypothesized that defective trafficking of the COL4A3 chain causes a …