The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

(2009) Hui Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Purification and Partial Characterization of a Lutein-Binding Protein from Human Retina

(2009) Prakash Bhosale et al.   BIOCHEMISTRY

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

(2009) Mei Hong Tan et al.   HUMAN MOLECULAR GENETICS

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

(2009) Saravanan Kolandaivelu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional Cone Rescue by RdCVF Protein in a Dominant Model of Retinitis Pigmentosa

(2009) Ying Yang et al.   MOLECULAR THERAPY

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

(2009) B. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High cGMP synthetic activity in carp cones

(2009) Norihiko Takemoto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA

Rod photoreceptor differentiation in fetal and infant human retina

(2008) Anita Hendrickson et al.   EXPERIMENTAL EYE RESEARCH

Remodeling of cone photoreceptor cells after rod degeneration in rd mice

(2008) Bin Lin et al.   EXPERIMENTAL EYE RESEARCH

Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa

(2008) Claudio Punzo et al.   NATURE NEUROSCIENCE

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH