Gene therapies for inherited retinal disorders

Randomized Trial of Ciliary Neurotrophic Factor Delivered by Encapsulated Cell Intraocular Implants for Retinitis Pigmentosa

(2013) David G. Birch et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Gene Therapy for Blindness

(2013) José-Alain Sahel et al.   Annual Review of Neuroscience

Stem cells in retinal regeneration: past, present and future

(2013) C. M. Ramsden et al.   DEVELOPMENT

Chromatin remodeling by the small RNA machinery in mammalian cells

(2013) Long-Cheng Li   Epigenetics

The cell stress machinery and retinal degeneration

(2013) Dimitra Athanasiou et al.   FEBS LETTERS

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

(2013) V S Lopes et al.   GENE THERAPY

RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12

(2013) L. L. Molday et al.   HUMAN MOLECULAR GENETICS

Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa

(2013) K. J. Wert et al.   HUMAN MOLECULAR GENETICS

Hsp90 inhibition protects against inherited retinal degeneration

(2013) Mònica Aguilà et al.   HUMAN MOLECULAR GENETICS

The Role of miRNAs in Regulating Gene Expression Networks

(2013) Allan M. Gurtan et al.   JOURNAL OF MOLECULAR BIOLOGY

Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo

(2013) Tanya Tolmachova et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Therapeutic Margins in a Novel Preclinical Model of Retinitis Pigmentosa

(2013) R. J. Davis et al.   JOURNAL OF NEUROSCIENCE

Gene replacement therapy for retinal CNG channelopathies

(2013) Christian Schön et al.   MOLECULAR GENETICS AND GENOMICS

Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia

(2013) András M Komáromy et al.   MOLECULAR THERAPY

A Comprehensive Review of Retinal Gene Therapy

(2013) Shannon E Boye et al.   MOLECULAR THERAPY

RNA interference in the nucleus: roles for small RNAs in transcription, epigenetics and beyond

(2013) Stephane E. Castel et al.   NATURE REVIEWS GENETICS

RNAi or overexpression: Alternative therapies for Spinocerebellar Ataxia Type 1

(2013) Megan S. Keiser et al.   NEUROBIOLOGY OF DISEASE

AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models

(2013) Vidyullatha Vasireddy et al.   PLoS One

Myosin7a Deficiency Results in Reduced Retinal Activity Which Is Improved by Gene Therapy

(2013) Pasqualina Colella et al.   PLoS One

AAV-Mediated, Optogenetic Ablation of Müller Glia Leads to Structural and Functional Changes in the Mouse Retina

(2013) Leah C. Byrne et al.   PLoS One

Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects

(2013) Karina E. Guziewicz et al.   PLoS One

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

(2013) A. V. Cideciyan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Visual prostheses for the blind

(2013) Robert K. Shepherd et al.   TRENDS IN BIOTECHNOLOGY

ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering

(2013) Thomas Gaj et al.   TRENDS IN BIOTECHNOLOGY

Mitochondrial disorders: aetiologies, models systems, and candidate therapies

(2013) G. Jane Farrar et al.   TRENDS IN GENETICS

Preclinical Potency and Safety Studies of an AAV2-Mediated Gene Therapy Vector for the Treatment of MERTK Associated Retinitis Pigmentosa

(2013) Thomas J. Conlon et al.   Human Gene Therapy Clinical Development

Mitochondrial Dysfunction in Retinal Diseases

(2012) Megha Barot et al.   CURRENT EYE RESEARCH

Neuroprotective Strategies for the Treatment of Inherited Photoreceptor Degeneration

(2012) D. Trifunovic et al.   CURRENT MOLECULAR MEDICINE

Intravitreal delivery of AAV-NDI1 provides functional benefit in a murine model of Leber hereditary optic neuropathy

(2012) Naomi Chadderton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Preventing retinal apoptosis — Is there a common therapeutic theme?

(2012) Francesca Doonan et al.   EXPERIMENTAL CELL RESEARCH

Mutation-independent rescue of a novel mouse model of Retinitis Pigmentosa

(2012) D L Greenwald et al.   GENE THERAPY

Directed evolution of novel adeno-associated viruses for therapeutic gene delivery

(2012) M A Bartel et al.   GENE THERAPY

Safety and Biodistribution of an Equine Infectious Anemia Virus-Based Gene Therapy, RetinoStat®, for Age-Related Macular Degeneration

(2012) Katie Binley et al.   HUMAN GENE THERAPY

Efficacy of Codelivery of Dual AAV2/5 Vectors in the Murine Retina and Hippocampus

(2012) Arpad Palfi et al.   HUMAN GENE THERAPY

Long-Term Rescue of Retinal Structure and Function by Rhodopsin RNA Replacement with a Single Adeno-Associated Viral Vector in P23H RHO Transgenic Mice

(2012) Haoyu Mao et al.   HUMAN GENE THERAPY

AAV-Mediated Gene Therapy in the Guanylate Cyclase (RetGC1/RetGC2) Double Knockout Mouse Model of Leber Congenital Amaurosis

(2012) Sanford L. Boye et al.   HUMAN GENE THERAPY

Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa

(2012) K. J. Wert et al.   HUMAN MOLECULAR GENETICS

Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity

(2012) Céline Jaillard et al.   HUMAN MOLECULAR GENETICS

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

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

Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa

(2012) S. Koch et al.   HUMAN MOLECULAR GENETICS

DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice

(2012) Zongchao Han et al.   JOURNAL OF CLINICAL INVESTIGATION

CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice

(2012) Tanya Tolmachova et al.   JOURNAL OF GENE MEDICINE

Long-term expression of glial cell line-derived neurotrophic factor slows, but does not stop retinal degeneration in a model of retinitis pigmentosa

(2012) Masayuki Ohnaka et al.   JOURNAL OF NEUROCHEMISTRY

AAV-Mediated Cone Rescue in a Naturally Occurring Mouse Model of CNGA3-Achromatopsia

(2012) Ji-jing Pang et al.   PLoS One

Caspase Inhibition with XIAP as an Adjunct to AAV Vector Gene-Replacement Therapy: Improving Efficacy and Prolonging the Treatment Window

(2012) Jingyu Yao et al.   PLoS One

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

(2012) W. A. Beltran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

(2012) Robert S. Molday et al.   PROGRESS IN RETINAL AND EYE RESEARCH

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

Non-viral retinal gene therapy: a review

(2011) Peter Charbel Issa et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Zinc-finger-based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa

(2011) Claudio Mussolino et al.   EMBO Molecular Medicine

Lentivirus-mediated expression of cDNA and shRNA slows degeneration in retinitis pigmentosa

(2011) Joaquin Tosi et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

Overexpression of SOD in retina: Need for increase in H2O2-detoxifying enzyme in same cellular compartment

(2011) Shinichi Usui et al.   FREE RADICAL BIOLOGY AND MEDICINE

Gene-based therapies for dominantly inherited retinopathies

(2011) G J Farrar et al.   GENE THERAPY

Non-viral gene therapy for GDNF production in RCS rat: the crucial role of the plasmid dose

(2011) E Touchard et al.   GENE THERAPY

Novel adeno-associated viral vectors for retinal gene therapy

(2011) L H Vandenberghe et al.   GENE THERAPY

Gene supplementation therapy for recessive forms of inherited retinal dystrophies

(2011) A J Smith et al.   GENE THERAPY

Optogenetic therapy for retinitis pigmentosa

(2011) V Busskamp et al.   GENE THERAPY

Enhanced gene delivery to the neonatal retina through systemic administration of tyrosine-mutated AAV9

(2011) D Dalkara et al.   GENE THERAPY

Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency

(2011) Marija Mihelec et al.   HUMAN GENE THERAPY

Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis

(2011) Cristy A. Ku et al.   HUMAN MOLECULAR GENETICS

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

(2011) L. S. Carvalho et al.   HUMAN MOLECULAR GENETICS

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

(2011) Lisa M. Baye et al.   HUMAN MOLECULAR GENETICS

Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa

(2011) Sophia Millington-Ward et al.   MOLECULAR THERAPY

AAV Mediated GDNF Secretion From Retinal Glia Slows Down Retinal Degeneration in a Rat Model of Retinitis Pigmentosa

(2011) Deniz Dalkara et al.   MOLECULAR THERAPY

LiGluR Restores Visual Responses in Rodent Models of Inherited Blindness

(2011) Natalia Caporale et al.   MOLECULAR THERAPY

Virally delivered Channelrhodopsin-2 Safely and Effectively Restores Visual Function in Multiple Mouse Models of Blindness

(2011) M Mehdi Doroudchi et al.   MOLECULAR THERAPY

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

Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model

(2011) D. L. Simons et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induced pluripotent stem cell technology for generating photoreceptors

(2011) Cédric Boucherie et al.   Regenerative Medicine

ER stress in retinal degeneration: a target for rational therapy?

(2011) Ana Griciuc et al.   TRENDS IN MOLECULAR MEDICINE

Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial Recruitment

(2010) Byron L. Lam   ARCHIVES OF OPHTHALMOLOGY

Induction of Rapid and Highly Efficient Expression of the Human ND4 Complex I Subunit in the Mouse Visual System by Self-complementary Adeno-Associated Virus

(2010) Rajeshwari D. Koilkonda   ARCHIVES OF OPHTHALMOLOGY

Gene therapy in the second eye of RPE65-deficient dogs improves retinal function

(2010) M J Annear et al.   GENE THERAPY

Replacement Gene Therapy with a Human RPGRIP1 Sequence Slows Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis

(2010) Basil S. Pawlyk et al.   HUMAN GENE THERAPY

AAV Delivery of Wild-Type Rhodopsin Preserves Retinal Function in a Mouse Model of Autosomal Dominant Retinitis Pigmentosa

(2010) Haoyu Mao et al.   HUMAN GENE THERAPY

Prevention of autosomal dominant retinitis pigmentosa by systemic drug therapy targeting heat shock protein 90 (Hsp90)

(2010) Lawrence C.S. Tam et al.   HUMAN MOLECULAR GENETICS

Gene therapy rescues cone function in congenital achromatopsia

(2010) András M. Komáromy et al.   HUMAN MOLECULAR GENETICS

Visual Function in Mice with Photoreceptor Degeneration and Transgenic Expression of Channelrhodopsin 2 in Ganglion Cells

(2010) S. Thyagarajan et al.   JOURNAL OF NEUROSCIENCE

Restoration of Cone Vision in the CNGA3−/− Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function

(2010) Stylianos Michalakis et al.   MOLECULAR THERAPY

Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa

(2010) Ji-jing Pang et al.   MOLECULAR THERAPY

Optogenetic interrogation of neural circuits: technology for probing mammalian brain structures

(2010) Feng Zhang et al.   Nature Protocols

Neuroprotective effect of overexpression of thioredoxin on photoreceptor degeneration in Tubby mice

(2010) Li Kong et al.   NEUROBIOLOGY OF DISEASE

Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse

(2010) Shannon E. Boye et al.   PLoS One

Successful Amelioration of Mitochondrial Optic Neuropathy Using the Yeast NDI1 Gene in a Rat Animal Model

(2010) Mathieu Marella et al.   PLoS One

Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78

(2010) M. S. Gorbatyuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

(2010) Patrick Yu-Wai-Man et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Genetic Reactivation of Cone Photoreceptors Restores Visual Responses in Retinitis Pigmentosa

(2010) V. Busskamp et al.   SCIENCE

Channelrhodopsin-2 gene transduced into retinal ganglion cells restores functional vision in genetically blind rats

(2009) Hiroshi Tomita et al.   EXPERIMENTAL EYE RESEARCH

Gene delivery to mitotic and postmitotic photoreceptors via compacted DNA nanoparticles results in improved phenotype in a mouse model of retinitis pigmentosa

(2009) Xue Cai et al.   FASEB JOURNAL

AAV-mediated knockdown of Peripherin-2 in vivo using miRNA-based hairpins

(2009) A Georgiadis et al.   GENE THERAPY

Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations

(2009) X Sun et al.   GENE THERAPY

Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse

(2009) T K Park et al.   GENE THERAPY

Adeno-Associated Virus-Mediated Rhodopsin Replacement Provides Therapeutic Benefit in Mice with a Targeted Disruption of the Rhodopsin Gene

(2009) Arpad Palfi et al.   HUMAN GENE THERAPY

Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

(2009) Mei Hong Tan et al.   HUMAN MOLECULAR GENETICS

Ectopic Expression of Multiple Microbial Rhodopsins Restores ON and OFF Light Responses in Retinas with Photoreceptor Degeneration

(2009) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

The Thioredoxin-like Protein Rod-derived Cone Viability Factor (RdCVFL) Interacts with TAU and Inhibits Its Phosphorylation in the Retina

(2009) Ram Fridlich et al.   MOLECULAR & CELLULAR PROTEOMICS

Improved Retinal Function in a Mouse Model of Dominant Retinitis Pigmentosa Following AAV-delivered Gene Therapy

(2009) Naomi Chadderton et al.   MOLECULAR THERAPY

Functional Cone Rescue by RdCVF Protein in a Dominant Model of Retinitis Pigmentosa

(2009) Ying Yang et al.   MOLECULAR THERAPY

AAV-mediated Tyrosinase Gene Transfer Restores Melanogenesis and Retinal Function in a Model of Oculo-cutaneous Albinism Type I (OCA1)

(2009) Annagiusi Gargiulo et al.   MOLECULAR THERAPY

Increased Expression of Catalase and Superoxide Dismutase 2 Reduces Cone Cell Death in Retinitis Pigmentosa

(2009) Shinichi Usui et al.   MOLECULAR THERAPY

Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration

(2009) Francesca Simonelli et al.   MOLECULAR THERAPY

Effect of Genome Size on AAV Vector Packaging

(2009) Zhijian Wu et al.   MOLECULAR THERAPY

Visual Properties of Transgenic Rats Harboring the Channelrhodopsin-2 Gene Regulated by the Thy-1.2 Promoter

(2009) Hiroshi Tomita et al.   PLoS One

Optimized Allotopic Expression of the Human Mitochondrial ND4 Prevents Blindness in a Rat Model of Mitochondrial Dysfunction

(2008) Sami Ellouze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes

(2008) Crystel Bonnet et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Non-invasive gene transfer by iontophoresis for therapy of an inherited retinal degeneration

(2008) Eric H. Souied et al.   EXPERIMENTAL EYE RESEARCH

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

(2008) J Kong et al.   GENE THERAPY

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)

(2008) Lawrence C.S. Tam et al.   HUMAN MOLECULAR GENETICS

Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice

(2008) Mariacarmela Allocca et al.   JOURNAL OF CLINICAL INVESTIGATION

Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene Transfer

(2008) Jeannette Bennicelli et al.   MOLECULAR THERAPY

Effect of Late-stage Therapy on Disease Progression in AAV-mediated Rescue of Photoreceptor Cells in the Retinoschisin-deficient Mouse

(2008) Andreas Janssen 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

Restoration of visual function in retinal degeneration mice by ectopic expression of melanopsin

(2008) B. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

(2008) A. V. Cideciyan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA