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
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.
Villafuerte-de la Cruz RA et al.
Bmc Ophthalmology, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
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
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
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.
Sheikh SA et al.
Investigative Ophthalmology & Visual Science, 2019
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S et al.
American Journal of Human Genetics, 2018
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