Aryl-hydrocarbon-interacting protein-like 1
The AIPL1 gene encodes a chaperon. Mutations cause autosomal recessive Leber congenital amaurosis type 4.
Genetests:
Related Diseases:
References:
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Tan MH et al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors.
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Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.
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Sohocki MM et al. (2000) Prevalence of AIPL1 mutations in inherited retinal degenerative disease.
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Kirschman LT et al. (2010) The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells.
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Aboshiha J et al. (2015) Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy.
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Sohocki MM et al. (1999) Localization of retina/pineal-expressed sequences: identification of novel candidate genes for inherited retinal disorders.
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van der Spuy J et al. (2002) The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina.
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Akey DT et al. (2002) The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.
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Ramamurthy V et al. (2003) AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins.
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Liu X et al. (2004) AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase.
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Ramamurthy V et al. (2004) Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase.
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Makino CL et al. (2006) Effects of low AIPL1 expression on phototransduction in rods.
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Orphanet article
Orphanet ID 119559
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NCBI article
NCBI 23746
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OMIM.ORG article
Omim 604392
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Wikipedia article
Wikipedia EN (AIPL1)
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Update: Aug. 14, 2020