Nephronophthisis: disease mechanisms of a ciliopathy
F Hildebrandt, M Attanasio, E Otto - Journal of the American …, 2009 - journals.lww.com
Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic
cause of end-stage kidney disease in children and young adults. Positional cloning of nine
genes (NPHP1 through 9) and functional characterization of their encoded proteins
(nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as
“ciliopathies.” The theory is based on the finding that all proteins mutated in cystic kidney
diseases of humans or animal models are expressed in primary cilia or centrosomes of renal …
cause of end-stage kidney disease in children and young adults. Positional cloning of nine
genes (NPHP1 through 9) and functional characterization of their encoded proteins
(nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as
“ciliopathies.” The theory is based on the finding that all proteins mutated in cystic kidney
diseases of humans or animal models are expressed in primary cilia or centrosomes of renal …