Associated Papers
Ubap1l Knockout Mice Model Recapitulates Retinal Degeneration Phenotype Observed in Patients and Exhibits Irregular Photoreceptor Morphology.
Wang Y et al.
Investigative Ophthalmology & Visual Science, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Generation of human induced pluripotent stem cell lines from a subject with UBAP1L-associated retinal dystrophy and CRISPR/cas9-corrected isogenic iPSC lines.
Amprou A et al.
Stem Cell Research, 2024
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.
Ullah E et al.
Jama Ophthalmology, 2024
Advances in Ubiquitination and Proteostasis in Retinal Degeneration.
Wei J et al.
Frontiers in Bioscience (landmark Edition), 2024
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
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