Associated Papers
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
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Mitochondrial functional impairment in ARL3-mutation related rod-cone dystrophy.
Zhang X et al.
Faseb Bioadvances, 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
Interactions between TULP3 tubby domain and ARL13B amphipathic helix promote lipidated protein transport to cilia.
Palicharla VR et al.
Molecular Biology of the Cell, 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
Genetic dissection of non-syndromic retinitis pigmentosa.
Bhardwaj A et al.
Indian Journal of Ophthalmology, 2022
ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses.
Powell L et al.
Small Gtpases, 2021
Autosomal Recessive Rod-Cone Dystrophy Associated With Compound Heterozygous Variants in ARL3 Gene.
Fu L et al.
Frontiers in Cell and Developmental Biology, 2021
A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration.
Ratnapriya R et al.
Frontiers in Cell and Developmental Biology, 2021
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.
Sheikh SA et al.
Investigative Ophthalmology & Visual Science, 2019
Dominant ARL3-related retinitis pigmentosa.
Holtan JP et al.
Ophthalmic Genetics, 2019
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S et al.
American Journal of Human Genetics, 2018
Binary Function of ARL3-GTP Revealed by Gene Knockouts.
Hanke-Gogokhia C et al.
Advances in Experimental Medicine and Biology, 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
Association between targeted somatic mutation (TSM) signatures and HGS-OvCa progression.
Lindley RA et al.
Cancer Medicine, 2016
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Strom SP et al.
Plos One, 2016