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Article

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

26 May 2020

Abstract excerpt

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we used the recently identified JBTS-associated protein armadillo repeat motif-containing 9 (ARMC9) in...

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PMID: 32453716
DOI: 10.1172/jci131656

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