CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

(2013) Yan Zhang 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

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa

(2013) Budd A Tucker et al.   eLife

A TALEN Genome-Editing System for Generating Human Stem Cell-Based Disease Models

(2012) Qiurong Ding et al.   Cell Stem Cell

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

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

Bioinformatic Clonality Analysis of Next-Generation Sequencing-Derived Viral Vector Integration Sites

(2012) Anne Arens et al.   Human Gene Therapy Methods

Use of a Synthetic Xeno-Free Culture Substrate for Induced Pluripotent Stem Cell Induction and Retinal Differentiation

(2012) Budd A. Tucker et al.   Stem Cells Translational Medicine

Ocular gene delivery using lentiviral vectors

(2011) K S Balaggan et al.   GENE THERAPY

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

(2011) Artur V. Cideciyan et al.   HUMAN MOLECULAR GENETICS

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

Distribution of Lentiviral Vector Integration Sites in Mice Following Therapeutic Gene Transfer to Treat β-thalassemia

(2011) Keshet Ronen et al.   MOLECULAR THERAPY

Genetic engineering of human pluripotent cells using TALE nucleases

(2011) Dirk Hockemeyer et al.   NATURE BIOTECHNOLOGY

Efficient design and assembly of custom TALEN and other TAL effector-based constructs for DNA targeting

(2011) Tomas Cermak et al.   NUCLEIC ACIDS RESEARCH

Transplantation of Adult Mouse iPS Cell-Derived Photoreceptor Precursors Restores Retinal Structure and Function in Degenerative Mice

(2011) Budd A. Tucker et al.   PLoS One

Bicistronic Lentiviruses Containing a Viral 2A Cleavage Sequence Reliably Co-Express Two Proteins and Restore Vision to an Animal Model of LCA1

(2011) Jonathan D. Verrier et al.   PLoS One

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

(2011) B. A. Tucker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

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

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

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

(2009) Albert M Maguire et al.   LANCET

A Simple Cipher Governs DNA Recognition by TAL Effectors

(2009) M. J. Moscou et al.   SCIENCE

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

Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy

(2008) J Kong et al.   GENE THERAPY

Treatment of Leber Congenital Amaurosis Due to RPE65 Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial

(2008) William W. Hauswirth et al.   HUMAN GENE THERAPY

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

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE