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Jun 28, 2021
Broadening INPP5E phenotypic spectrum:
Here, we report 16 non-syndromic IRD patients and two cases with an IRD and some JBTS clinical features with pathogenic variants in INPP5E.

Jul 14, 2018
Understanding the molecular mechanisms underlying retina degeneration in INPP5E-Joubert Syndrome
Our goal is to identify the onset of degeneration and devise gene-based therapies to ameliorate or cure the retina disease.


Oct 14, 2016
Prenylated retinal ciliopathy protein RPGR interacts with PDE6B,
Regulates ciliary localization of Joubert syndrome-associated protein INPP5E Kollu N. Rao, Wei Zhang, Linjing Li, Manisha Anand, and...


Oct 14, 2016
Prenylated retinal ciliopathy protein RPGR interacts with PDE6B and regulates ciliary localization of Joubert syndrome-associated protein INPP5E
RPGR as a critical to cilia and suggest that trafficking of INPP5E to cilia depends upon the interaction of RPGR with PDE6B.


Apr 28, 2015
Mutation analysis in 129 genes associated with other forms of retinal dystrophy
Findings suggest that a small portion of RP may be caused by mutations in genes responsible for other forms of retinal dystrophy.
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