protein
| NEDD8 Ultimate Buster 1, NUB1 |
|
farnesylated proteins |
|
interacting with HSP90 and HSP70 (specialized role of AIPL1 in photoreceptors may be modulated by the molecular chaperones Hsp90 and Hsp70, and this association may be important in the pathogenesis of LCA) |
|
interacting with PDE6A and is needed for the proper assembly of functional rod PDE6 subunits |
|
AIPL1 interact with NUB1, which facilitates the proteasomal degradation of proteins modified with the ubiquitin-like protein UBD |
|
NEUROD1 may act through AIPL1 and other genes to maintain photoreceptor homeostasis |
|
ZP3 regulates AKT1 phosphorylation, lamin binding to the nuclear membrane via AIPL1, and organization of the actin cytoskeleton via DIAPH2 |
|
AIPL1 was unexpectedly capable of inducing the maturation of unprenylated cone PDE6C, whereas mutant AIPL1 deficient in prenyl binding competently cochaperoned prenylated PDE6C |
| Aipl1-/- mice have highly disorganized, short, fragmented photoreceptor outer segments and lack both rod and cone electroretinogram responses | |
knockdown of AIPL1 expression in mice produces a retinopathy with a reduction in the level of rod cGMP phosphodiesterase expression |
|
Aipl1-/- mouse displays rapid retinal degeneration and massive Müler cell gliosis |
|
mouse with rods expressing lowered amounts of AIPL1 delayed the photoresponse, decreased its amplification constant, slowed a rate-limiting step in its recovery, and limited the light-induced decrease in Ca2 |
|
in mice lacking endogenous Aipl1, rod-specific expression of hAIPL1 protein completely rescues rod outer segment ultrastructure |
|
restoration of cellular function and preservation of photoreceptor cells and retinal function in Aipl1 h/h mice following gene replacement therapy using an AAV2/2 vector and in the light accelerated Aipl1 h/h model and Aipl1-/- mice using an AAV2/8 vector |