scholarly article | Q13442814 |
P50 | author | Visvanathan Ramamurthy | Q55137350 |
P2093 | author name string | Saravanan Kolandaivelu | |
Ratnesh K Singh | |||
P2860 | cites work | Cyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited Disease | Q40069094 |
Cone cell survival and downregulation of GCAP1 protein in the retinas of GC1 knockout mice | Q45081321 | ||
Retinal degeneration in Aipl1-deficient mice: a new genetic model of Leber congenital amaurosis | Q45175743 | ||
Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining | Q45862739 | ||
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy | Q45869158 | ||
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 degeneration | Q47073487 | ||
Anatomical evidence of photoreceptor degeneration induced by iodoacetic acid in the porcine eye. | Q54575576 | ||
Prevalence of AIPL1 mutations in inherited retinal degenerative disease | Q55670727 | ||
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis | Q22010998 | ||
AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins | Q24297621 | ||
In vivo differential prenylation of retinal cyclic GMP phosphodiesterase catalytic subunits | Q28208628 | ||
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase | Q28509144 | ||
The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors | Q28585678 | ||
Nrl is required for rod photoreceptor development | Q28595099 | ||
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina | Q30051782 | ||
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration | Q30464083 | ||
The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells | Q33697709 | ||
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 mutations | Q34332943 | ||
Factors that affect regulation of cGMP synthesis in vertebrate photoreceptors and their genetic link to human retinal degeneration | Q34599869 | ||
Leber congenital amaurosis: genes, proteins and disease mechanisms | Q34796759 | ||
RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segments | Q35008463 | ||
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 AIPL1 | Q35522527 | ||
A typology of photoreceptor gene expression patterns in the mouse | Q35879677 | ||
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 retina | Q36595691 | ||
Involvement of guanylate cyclases in transport of photoreceptor peripheral membrane proteins | Q37055069 | ||
Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety | Q37175192 | ||
AIPL1, a protein associated with childhood blindness, interacts with alpha-subunit of rod phosphodiesterase (PDE6) and is essential for its proper assembly | Q37431368 | ||
Loss of daylight vision in retinal degeneration: are oxidative stress and metabolic dysregulation to blame? | Q37954832 | ||
P433 | issue | 4 | |
P921 | main subject | photoreceptor protein | Q7187894 |
P304 | page(s) | 1002-1012 | |
P577 | publication date | 2013-10-09 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells | |
P478 | volume | 23 |