In vitroandin vivorescue of aberrant splicing inCEP290-associated LCA by antisense oligonucleotide delivery

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

(2015) Xavier Gérard et al.   Molecular Therapy-Nucleic Acids

Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors

(2014) P Colella et al.   GENE THERAPY

CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

(2014) E R Burnight et al.   GENE THERAPY

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

(2014) Robert E MacLaren et al.   LANCET

Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy

(2014) Shannon E. Boye et al.   PLoS One

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

(2014) Sobia Shafique et al.   PLoS One

Antisense oligonucleotides: modifications and clinical trials

(2014) Vivek K. Sharma et al.   MedChemComm

Apolipoprotein B Antisense Inhibition -Update on Mipomersen

(2013) Catherine Gebhard et al.   CURRENT PHARMACEUTICAL DESIGN

Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus

(2013) V S Lopes et al.   GENE THERAPY

Safety and pharmacokinetics of the antisense oligonucleotide (ASO) LY2181308 as a single-agent or in combination with idarubicin and cytarabine in patients with refractory or relapsed acute myeloid leukemia (AML)

(2013) Harry P. Erba et al.   INVESTIGATIONAL NEW DRUGS

A Comprehensive Review of Retinal Gene Therapy

(2013) Shannon E Boye et al.   MOLECULAR THERAPY

Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness

(2013) Jennifer J Lentz et al.   NATURE MEDICINE

Tropisms of AAV for Subretinal Delivery to the Neonatal Mouse Retina and Its Application for In Vivo Rescue of Developmental Photoreceptor Disorders

(2013) Satoshi Watanabe et al.   PLoS One

AAV9 Targets Cone Photoreceptors in the Nonhuman Primate Retina

(2013) Luk H. Vandenberghe et al.   PLoS One

Targeting Photoreceptors via Intravitreal Delivery Using Novel, Capsid-Mutated AAV Vectors

(2013) Christine N. Kay et al.   PLoS One

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

(2013) Alejandro Garanto et al.   PLoS One

In Vivo-Directed Evolution of a New Adeno-Associated Virus for Therapeutic Outer Retinal Gene Delivery from the Vitreous

(2013) D. Dalkara et al.   Science Translational Medicine

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

(2013) Xavier Gerard et al.   Molecular Therapy-Nucleic Acids

AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness

(2012) J. Bennett et al.   Science Translational Medicine

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

(2012) Rob WJ Collin et al.   Molecular Therapy-Nucleic Acids

The privileged immunity of immune privileged organs: the case of the eye

(2012) Inbal Benhar et al.   Frontiers in Immunology

Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations

(2011) Samuel G. Jacobson   ARCHIVES OF OPHTHALMOLOGY

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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

(2011) Nathalie M. Goemans et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic therapies for RNA mis-splicing diseases

(2011) Suzan M. Hammond et al.   TRENDS IN GENETICS

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

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

(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

Carnitine reduces the lipoperoxidative damage of the membrane and apoptosis after induction of cell stress in experimental glaucoma

(2010) N Calandrella et al.   Cell Death & Disease

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

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

Detection of Intact rAAV Particles up to 6 Years After Successful Gene Transfer in the Retina of Dogs and Primates

(2008) Knut Stieger et al.   MOLECULAR THERAPY

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

Leber congenital amaurosis: Genes, proteins and disease mechanisms

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

Versatility of AAV vectors for retinal gene transfer

(2007) Enrico M. Surace et al.   VISION RESEARCH