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Leber Congenital Amaurosis 4

Known as: LCA4 
National Institutes of Health

Related topics

Related topics

3 relations
Autosomal recessive inheritancePendular Nystagmus

Broader (1)

Leber Congenital Amaurosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Aipl1 is required for cone photoreceptor function and survival through the stability of Pde6c and Gc3 in zebrafish
Genetic mutations in aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) cause photoreceptor degeneration associated… 
2014
2014
Early alteration of retinal neurons in Aipl1-/- animals.
PURPOSE Mutations in the photoreceptor cell-specific gene encoding aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1… 
2012
2012
Structural studies on AIPL1 and its functional interactions with NUB1 to identify key interacting residues in LCA4
Leber congenital amaurosis (LCA) is an autosomal recessive disorder that causes visual impairment in children due to fifteen… 
2011
2011
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy.
PURPOSE To evaluate the suitability of gene delivery-based approaches as potential treatment of Leber congenital amaurosis 4… 
2011
2011
Fighting blindness with adeno-associated virus serotype 8.
The paper by Mihelec and colleagues in the current issue of Human Gene Therapy highlights the potential of adenoassociated virus… 
2005
2005
Gene symbol: AIPL1. Disease: LCA4.
Highly Cited
2004
Highly Cited
2004
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.
Leber congenital amaurosis (LCA4) has been linked to mutations in the photoreceptor-specific gene Aryl hydrocarbon interacting… 
Highly Cited
2000
Highly Cited
2000
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
Leber congenital amaurosis (LCA, MIM 204000) accounts for at least 5% of all inherited retinal disease and is the most severe… 
Highly Cited
2000
Highly Cited
2000
Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited… 
Highly Cited
2000
Highly Cited
2000
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13.
PURPOSE A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000… 
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