A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

ABSTRACT: Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multi-system phenotypes, including a cerebello-retinal-renal syndrome. JBTS is genetically heterogeneous, however mutations in CEP290 are a common underlying cause. The renal manifestation of JBTS is a juvenile-onset cystic kidney disease, known as nephronophthisis, typically progressing to end-stage renal failure within the first two decades of life, thus providing a potential window for therapeutic intervention. In order to increase understanding of JBTS and its associated kidney disease and to explore potential treatments, we conducted a comprehensive analysis of primary renal epithelial cells directly isolated from patient urine (human urine-derived renal epithelial cel

SUBMITTER: Srivastava S 

PROVIDER: S-EPMC5886250 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature