[HTML][HTML] Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases
EN Pokidysheva, H Seeger, V Pedchenko… - Journal of Biological …, 2021 - ASBMB
Diseases of the glomerular basement membrane (GBM), such as Goodpasture's disease
(GP) and Alport syndrome (AS), are a major cause of chronic kidney failure and an unmet
medical need. Collagen IV α345 is an important architectural element of the GBM that was
discovered in previous research on GP and AS. How this collagen enables GBM to function
as a permselective filter and how structural defects cause renal failure remain an enigma.
We found a distinctive genetic variant of collagen IV α345 in both a familial GP case and four …
(GP) and Alport syndrome (AS), are a major cause of chronic kidney failure and an unmet
medical need. Collagen IV α345 is an important architectural element of the GBM that was
discovered in previous research on GP and AS. How this collagen enables GBM to function
as a permselective filter and how structural defects cause renal failure remain an enigma.
We found a distinctive genetic variant of collagen IV α345 in both a familial GP case and four …