Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

(2011) Edwin M. Stone   ARCHIVES OF OPHTHALMOLOGY

The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders

(2010) Alexa N. Bramall et al.   Annual Review of Neuroscience

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content

(2010) Branch Craige et al.   JOURNAL OF CELL BIOLOGY

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

(2010) Carlos A. Murga-Zamalloa et al.   JOURNAL OF GENETICS

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

(2010) Alan F. Wright et al.   NATURE REVIEWS GENETICS

Treatment Possibilities for Retinitis Pigmentosa

(2010) Samuel G. Jacobson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

(2010) Artur V. Cideciyan   PROGRESS IN RETINAL AND EYE RESEARCH

The primary cilium as a cellular signaling center: lessons from disease

(2009) Madeline A Lancaster et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Cone-Rod Dependence in the Rat Retina: Variation with the Rate of Rod Damage

(2009) V. Chrysostomou et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Trafficking of Membrane Proteins to Cone But Not Rod Outer Segments Is Dependent on Heterotrimeric Kinesin-II

(2009) P. Avasthi et al.   JOURNAL OF NEUROSCIENCE

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease

(2008) William Y. Tsang et al.   DEVELOPMENTAL CELL

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

(2008) Christine Insinna et al.   DEVELOPMENTAL DYNAMICS

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer et al.   HUMAN MOLECULAR GENETICS

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

(2008) Joon Kim et al.   HUMAN MOLECULAR GENETICS

Leber congenital amaurosis: Genes, proteins and disease mechanisms

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