AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells

scientific article published on 09 October 2013

AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/HMG/DDT496
P932PMC publication ID3900108
P698PubMed publication ID24108108
P5875ResearchGate publication ID257598808

P50authorVisvanathan RamamurthyQ55137350
P2093author name stringSaravanan Kolandaivelu
Ratnesh K Singh
P2860cites workCyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited DiseaseQ40069094
Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout miceQ45081321
Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosisQ45175743
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remainingQ45862739
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapyQ45869158
Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3.Q46404515
A functional variant in the CFI gene confers a high risk of age-related macular degenerationQ47073487
Anatomical evidence of photoreceptor degeneration induced by iodoacetic acid in the porcine eye.Q54575576
Prevalence of AIPL1 mutations in inherited retinal degenerative diseaseQ55670727
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosisQ22010998
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteinsQ24297621
In vivo differential prenylation of retinal cyclic GMP phosphodiesterase catalytic subunitsQ28208628
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesteraseQ28509144
The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptorsQ28585678
Nrl is required for rod photoreceptor developmentQ28595099
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retinaQ30051782
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degenerationQ30464083
The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cellsQ33697709
The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development.Q34279110
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutationsQ34332943
Factors that affect regulation of cGMP synthesis in vertebrate photoreceptors and their genetic link to human retinal degenerationQ34599869
Leber congenital amaurosis: genes, proteins and disease mechanismsQ34796759
RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segmentsQ35008463
Rod phosphodiesterase-6 (PDE6) catalytic subunits restore cone function in a mouse model lacking cone PDE6 catalytic subunit.Q35311820
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1Q35522527
A typology of photoreceptor gene expression patterns in the mouseQ35879677
Why photoreceptors die (and why they don't).Q36425615
Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retinaQ36595691
Involvement of guanylate cyclases in transport of photoreceptor peripheral membrane proteinsQ37055069
Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moietyQ37175192
AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assemblyQ37431368
Loss of daylight vision in retinal degeneration: are oxidative stress and metabolic dysregulation to blame?Q37954832
P433issue4
P921main subjectphotoreceptor proteinQ7187894
P304page(s)1002-1012
P577publication date2013-10-09
P1433published inHuman Molecular GeneticsQ2720965
P1476titleAIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells
P478volume23