Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.D477N
Back to variants list

INPP5E

NM_019892.6:p.D477N

Associated Papers

Increasing Ciliary ARL13B Expression Drives Active and Inhibitor-Resistant Smoothened and GLI into Glioma Primary Cilia.

Shi P et al.

Cells, 2023

Multiple ciliary localization signals control INPP5E ciliary targeting.

Cilleros-Rodriguez D et al.

Elife, 2022

Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies.

Xie C et al.

Jci Insight, 2022

The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling.

Schembs L et al.

Cell Reports, 2022

Plasma membrane phosphatidylinositol (4,5)-bisphosphate is critical for determination of epithelial characteristics.

Kanemaru K et al.

Nature Communications, 2022

INPP5E controls ciliary localization of phospholipids and the odor response in olfactory sensory neurons.

Ukhanov K et al.

Journal of Cell Science, 2022

A high-avidity biosensor reveals plasma membrane PI(3,4)P2 is predominantly a class I PI3K signaling product.

Goulden BD et al.

The Journal of Cell Biology, 2019

30591513 (PubMed )
Supplement: JCB_201809026_sm.pdf

Dynamic Remodeling of Membrane Composition Drives Cell Cycle through Primary Cilia Excision.

Phua SC et al.

Cell, 2017

Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.

Hasegawa J et al.

The Embo Journal, 2016

Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling.

Garcia-Gonzalo FR et al.

Developmental Cell, 2015

Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output.

Chávez M et al.

Developmental Cell, 2015

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Bielas SL et al.

Nature Genetics, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."