NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis
EA Otto, ML Trapp, UT Schultheiss… - Journal of the …, 2008 - journals.lww.com
Nephronophthisis, an autosomal recessive kidney disease, is the most frequent genetic
cause of chronic renal failure in the first 3 decades of life. Causative mutations in 8 genes
(NPHP1–8) have been identified, and homologous mouse models for NPHP2/INVS and
NPHP3 have been described. The jck mouse is another model of recessive cystic kidney
disease, and this mouse harbors a missense mutation, G448V, in the highly conserved
RCC1 domain of Nek8. We hypothesized that mutations in NEK8 might cause …
cause of chronic renal failure in the first 3 decades of life. Causative mutations in 8 genes
(NPHP1–8) have been identified, and homologous mouse models for NPHP2/INVS and
NPHP3 have been described. The jck mouse is another model of recessive cystic kidney
disease, and this mouse harbors a missense mutation, G448V, in the highly conserved
RCC1 domain of Nek8. We hypothesized that mutations in NEK8 might cause …