Article
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Human molecular genetics - 1 Dec 2017
Srivastava Shalabh, Ramsbottom Simon A, Molinari Elisa, Alkanderi Sumaya, Filby Andrew, White Kathryn, Henry Charline, Saunier Sophie, Miles Colin G, Sayer John A
Abstract excerpt
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...
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