Associated Papers
Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.
Galieva A et al.
International Journal of Molecular Sciences, 2025
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Shalom S et al.
Genes, 2024
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
AIPL1: A specialized chaperone for the phototransduction effector.
Yadav RP et al.
Cellular Signalling, 2017
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Sacristan-Reviriego A et al.
Human Molecular Genetics, 2017
Unique structural features of the AIPL1-FKBP domain that support prenyl lipid binding and underlie protein malfunction in blindness.
Yadav RP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.
Gopalakrishna KN et al.
The Journal of Biological Chemistry, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
Beryozkin A et al.
Scientific Reports, 2015
Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.
Majumder A et al.
The Journal of Biological Chemistry, 2013
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2011
Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.
Banin E et al.
Human Gene Therapy, 2010
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004