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
Mitochondrial functional impairment in ARL3-mutation related rod-cone dystrophy.
Zhang X et al.
Faseb Bioadvances, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 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
Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15.
Hadalin V et al.
Genes, 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
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