Here, we report 16 non-syndromic IRD patients and two cases with an IRD and some JBTS clinical features with pathogenic variants in INPP5E.

Our goal is to identify the onset of degeneration and devise gene-based therapies to ameliorate or cure the retina disease.

Johannes Birtel , Tobias Eisenberger , Martin Gliem , Philipp L. Müller , Philipp Herrmann , Christian Betz , Diana Zahnleiter ,...

Mutations in inositol polyphosphate 5-phosphatase E (INPP5E) cause Joubert syndrome, a human disorder associated with numerous ciliopathic

Regulates ciliary localization of Joubert syndrome-associated protein INPP5E Kollu N. Rao, Wei Zhang, Linjing Li, Manisha Anand, and...

RPGR as a critical to cilia and suggest that trafficking of INPP5E to cilia depends upon the interaction of RPGR with PDE6B.

Findings suggest that a small portion of RP may be caused by mutations in genes responsible for other forms of retinal dystrophy.

To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant RP.

In this study, we sought to determine the functional network of INPP5E and the mechanisms by which INPP5E is targeted to primary cilia.