Condition: Leber Congenital Amaurosis 4


rs1264794214 in AIPL1 gene and Leber Congenital Amaurosis 4 PMID 20702822 2011 Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

PMID 27268253 2016 Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client.

PMID 28973376 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.

PMID 23737531 2013 Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety.

PMID 21153841 2011 Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.

PMID 10615133 2000 Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.

PMID 17724218 2007 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

PMID 12374762 2002 The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.

PMID 15347646 2004 The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments.

PMID 21474771 2011 Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.

PMID 25799540 2015 The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.

PMID 15249368 2004 The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

PMID 22412862 2012 Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

PMID 10873396 2000 Prevalence of AIPL1 mutations in inherited retinal degenerative disease.