AIPL1, a Protein Associated with Childhood Blindness, Interacts with α-Subunit of Rod Phosphodiesterase (PDE6) and Is Essential for Its Proper Assembly

Mutations in the gene coding for AIPL1 cause Leber congenital amaurosis (LCA), a severe form of childhood blindness. The severity in disease is reflected in the complete loss of vision and rapid photoreceptor degeneration in the retinas of mice deficient in AIPL1. Our previous observations suggest t...

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Detalhes bibliográficos
Main Authors: Kolandaivelu, Saravanan, Huang, Jing, Hurley, James B., Ramamurthy, Visvanathan
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2009
Assuntos:
Protein Synthesis, Post-Translational Modification, and Degradation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2781484/
https://ncbi.nlm.nih.gov/pubmed/19758987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.036780
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