Varaico: Literature-Extracted Genetic Variants

Gene:ARL3
Variant:p.Q71L
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ARL3

NM_004311.4:p.Q71L

Associated Papers

Molecular basis for the activation of outer dynein arms in cilia.

Issa KHB et al.

Nature Structural & Molecular Biology, 2025

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

Corral-Serrano JC et al.

Human Molecular Genetics, 2025

ARL3 GTPases facilitate ODA16 unloading from IFT in motile cilia.

Huang Y et al.

Science Advances, 2024

Mechanisms underlying morphological and functional changes of cilia in fibroblasts derived from patients bearing ARL3T31A and ARL3T31A/C118F mutations.

Zhang X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.

Sangermano R et al.

Advances in Experimental Medicine and Biology, 2023

Human Mutations in Arl3, a Small GTPase Involved in Lipidated Cargo Delivery to the Cilia, Cause Retinal Dystrophy.

Travis AM et al.

Advances in Experimental Medicine and Biology, 2023

ARF family GTPases with links to cilia.

Fisher S et al.

American Journal of Physiology. Cell Physiology, 2020

Insights into photoreceptor ciliogenesis revealed by animal models.

Baehr W et al.

Progress in Retinal and Eye Research, 2019

ADP-Ribosylation Factor-Like 2 (ARL2) regulates cilia stability and development of outer segments in rod photoreceptor neurons.

Wright ZC et al.

Scientific Reports, 2018

Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling.

Lyraki R et al.

Journal of Cell Science, 2018

The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment.

Hanke-Gogokhia C et al.

The Journal of Biological Chemistry, 2017

Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.

Liu F et al.

The Journal of Biological Chemistry, 2017

A New STAT3-binding Partner, ARL3, Enhances the Phosphorylation and Nuclear Accumulation of STAT3.

Togi S et al.

The Journal of Biological Chemistry, 2016

ARL3 regulates trafficking of prenylated phototransduction proteins to the rod outer segment.

Wright ZC et al.

Human Molecular Genetics, 2016

The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function.

Lokaj M et al.

Structure (london, England : 1993), 2015

Membrane protein transport in photoreceptors: the function of PDEδ: the Proctor lecture.

Baehr W

Investigative Ophthalmology & Visual Science, 2014

Arl3 and LC8 regulate dissociation of dynactin from dynein.

Jin M et al.

Nature Communications, 2014

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.

Schwarz N et al.

Vision Research, 2012

Rabs and other small GTPases in ciliary transport.

Lim YS et al.

Biology of the Cell, 2011

Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex.

Veltel S et al.

Febs Letters, 2008

Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.

Bartolini F et al.

The Journal of Biological Chemistry, 2002

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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."