Choroideremia: molecular mechanisms and development of AAV gene therapy

Retinal Degeneration in Choroideremia follows an Exponential Decay Function

(2018) James W. Aylward et al.   OPHTHALMOLOGY

Technique of retinal gene therapy: delivery of viral vector into the subretinal space

(2017) K Xue et al.   EYE

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy

(2017) Simona Torriano et al.   HUMAN MOLECULAR GENETICS

Single-base substitutions in the CHM promoter as a cause of choroideremia

(2017) Alina Radziwon et al.   HUMAN MUTATION

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

(2017) Stephen Russell et al.   LANCET

Natural History of the Central Structural Abnormalities in Choroideremia

(2017) Tomas S. Aleman et al.   OPHTHALMOLOGY

Routing of the RAB6 secretory pathway towards the lysosome related organelle of melanocytes

(2017) Anand Patwardhan et al.   Nature Communications

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs

(2017) Conor M. Ramsden et al.   Scientific Reports

Inclusion of the Woodchuck Hepatitis Virus Posttranscriptional Regulatory Element Enhances AAV2-Driven Transduction of Mouse and Human Retina

(2017) Maria I. Patrício et al.   Molecular Therapy-Nucleic Acids

The zebrafish eye—a paradigm for investigating human ocular genetics

(2016) R Richardson et al.   EYE

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model

(2016) Mariya Moosajee et al.   HUMAN MOLECULAR GENETICS

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial

(2016) Jean Bennett et al.   LANCET

Protein prenylation: unique fats make their mark on biology

(2016) Mei Wang et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Visual Acuity after Retinal Gene Therapy for Choroideremia

(2016) Thomas L. Edwards et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

(2016) Rocio Sanchez-Alcudia et al.   PLoS One

Evaluation of an Optimized Injection System for Retinal Gene Therapy in Human Patients

(2016) M. Dominik Fischer et al.   Human Gene Therapy Methods

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy

(2016) Paul R. Freund et al.   Molecular Genetics & Genomic Medicine

Long-Term Effect of Gene Therapy on Leber’s Congenital Amaurosis

(2015) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene Therapy for Retinal Disease: What Lies Ahead

(2015) Robert E. MacLaren   OPHTHALMOLOGICA

Correlation of Retinal Structure and Function in Choroideremia Carriers

(2015) Thomas L. Edwards et al.   OPHTHALMOLOGY

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

(2014) Nele Schwarz et al.   HUMAN MOLECULAR GENETICS

Prenylation defects in inherited retinal diseases

(2014) Susanne Roosing et al.   JOURNAL OF MEDICAL GENETICS

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

(2014) Robert E MacLaren et al.   LANCET

Gene Therapy for Choroideremia Using an Adeno-Associated Viral (AAV) Vector

(2014) A. R. Barnard et al.   Cold Spring Harbor Perspectives in Medicine

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient

(2014) Nicolas Cereso et al.   Molecular Therapy-Methods & Clinical Development

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

An internet-based health survey on the co-morbidities of choroideremia patients

(2013) Qi Zhou et al.   OPHTHALMIC AND PHYSIOLOGICAL OPTICS

Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2

(2013) Francesco Testa et al.   OPHTHALMOLOGY

Conditional Ablation of the Choroideremia Gene Causes Age-Related Changes in Mouse Retinal Pigment Epithelium

(2013) Silène T. Wavre-Shapton et al.   PLoS One

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

(2013) Vidyullatha Vasireddy et al.   PLoS One

Rab GTPase Prenylation Hierarchy and Its Potential Role in Choroideremia Disease

(2013) Monika Köhnke 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

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

Clinical applications of retinal gene therapy

(2012) Daniel M. Lipinski et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase

(2011) Gabriella Esposito et al.   HUMAN MUTATION

A novel statin-mediated “prenylation block-and-release” assay provides insight into the membrane targeting mechanisms of small GTPases

(2010) Bassam R. Ali et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The classical pathway of melanogenesis is not essential for melanin synthesis in the adult retinal pigment epithelium

(2010) Antje Biesemeier et al.   CELL AND TISSUE RESEARCH

The molecular basis of human retinal and vitreoretinal diseases

(2010) Wolfgang Berger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The functional effect of pathogenic mutations in Rab escort protein 1

(2009) Y.V. Sergeev et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

(2009) Natalia V. Strunnikova et al.   PLoS One

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

Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease

(2008) M. Moosajee 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