Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

(2012) A. Estrada-Cuzcano et al.   HUMAN MOLECULAR GENETICS

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

(2012) Isabelle Perrault et al.   NATURE GENETICS

NMNAT1 mutations cause Leber congenital amaurosis

(2012) Marni J Falk et al.   NATURE GENETICS

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

(2012) Pei-Wen Chiang et al.   NATURE GENETICS

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

(2012) Robert K Koenekoop et al.   NATURE GENETICS

Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons

(2012) H Patil et al.   Cell Death & Disease

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

(2011) Lin Li et al.   PLoS One

Spectrum ofSPATA7mutations in Leber congenital amaurosis and delineation of the associated phenotype

(2010) Isabelle Perrault et al.   HUMAN MUTATION

Dysfunction of Heterotrimeric Kinesin-2 in Rod Photoreceptor Cells and the Role of Opsin Mislocalization in Rapid Cell Death

(2010) Vanda S. Lopes et al.   MOLECULAR BIOLOGY OF THE CELL

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

Q344ter Mutation Causes Mislocalization of Rhodopsin Molecules That Are Catalytically Active: A Mouse Model of Q344ter-Induced Retinal Degeneration

(2010) Francis Concepcion et al.   PLoS One

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

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

Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants

(2009) Sujita Sukumaran et al.   VISION RESEARCH

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

(2008) B. L. Krock et al.   JOURNAL OF CELL SCIENCE

Light-Dependent Compartmentalization of Transducin in Rod Photoreceptors

(2008) Nikolai O. Artemyev   MOLECULAR NEUROBIOLOGY