Article

Deletion of INPP5E in the murine retina impairs axoneme formation and prevents photoreceptor disc morphogenesis

2020-11-30

Abstract excerpt

<h4>ABSTRACT</h4> INPP5E (pharbin) is a ubiquitously-expressed, farnesylated phosphatidylinositol polyphosphate 5’-phosphatase which modulates the phosphoinositide composition of membranes. INPP5E resides in primary cilia, and mutations or loss of INPP5E are associated with ciliary dysfunction. INPP5E missense mutations of the phosphatase catalytic domain cause Joubert syndrome in humans, a syndromic ciliopathy a...

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Literature Corpus work: f7dd8832-36b5-5cca-9343-29cd194b7d67
DOI: 10.1101/2020.11.29.403030

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