Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR

Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice

(2015) Linjing Li et al.   Cytoskeleton

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition

(2015) Kollu N. Rao et al.   Scientific Reports

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

(2015) Laura E. Yee et al.   PLoS Genetics

Photoreceptor Sensory Cilium: Traversing the Ciliary Gate

(2015) Hemant Khanna   Cells

Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

(2015) Marine Barbelanne et al.   HUMAN MOLECULAR GENETICS

An Unconventional Secretory Pathway Mediates the Cilia Targeting of Peripherin/rds

(2014) Guilian Tian et al.   JOURNAL OF NEUROSCIENCE

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

(2013) Yan Zhang et al.   HUMAN MOLECULAR GENETICS

Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis

(2013) Marine Barbelanne et al.   HUMAN MOLECULAR GENETICS

Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

(2013) Theodore G. Drivas et al.   JOURNAL OF CLINICAL INVESTIGATION

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases

(2012) Manisha Anand et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

(2012) Rivka A. Rachel et al.   JOURNAL OF CLINICAL INVESTIGATION

Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15

(2012) Debra A. Thompson et al.   PLoS One

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies

(2011) Carlos A. Murga-Zamalloa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

(2011) Madeline A Lancaster et al.   NATURE MEDICINE

Allelic Heterogeneity and Genetic Modifier Loci Contribute to Clinical Variation in Males with X-Linked Retinitis Pigmentosa Due to RPGR Mutations

(2011) Abigail T. Fahim et al.   PLoS One

NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development

(2010) Jungyeon Won et al.   HUMAN MOLECULAR GENETICS

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

(2010) C. A. Murga-Zamalloa et al.   HUMAN MOLECULAR GENETICS

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

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

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

Long-term follow-up of a family with dominant X-linked retinitis pigmentosa

(2009) D M Wu et al.   EYE

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

(2009) Amiya K. Ghosh et al.   HUMAN MOLECULAR GENETICS

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

(2009) Hemant Khanna et al.   NATURE GENETICS

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discordant Phenotypes in Fraternal Twins Having an Identical Mutation in Exon ORF15 of the RPGR Gene

(2008) Saloni Walia   ARCHIVES OF OPHTHALMOLOGY

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer et al.   HUMAN MOLECULAR GENETICS