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
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
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
Editorial: Genetic Mutations Associated With Ocular Diseases.
Yu M et al.
Frontiers in Cell and Developmental Biology, 2021
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