4.6 Article

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Retinal optogenetic therapies: clinical criteria for candidacy

S. G. Jacobson et al.

CLINICAL GENETICS (2013)

Article Biochemistry & Molecular Biology

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

V. S. Lopes et al.

GENE THERAPY (2013)

Article Medicine, Research & Experimental

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

Theodore G. Drivas et al.

JOURNAL OF CLINICAL INVESTIGATION (2013)

Review Biotechnology & Applied Microbiology

A Comprehensive Review of Retinal Gene Therapy

Shannon E. Boye et al.

MOLECULAR THERAPY (2013)

Article Multidisciplinary Sciences

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

Pasqualina Colella et al.

PLOS ONE (2013)

Article Multidisciplinary Sciences

Protective Effects of Resveratrol in Experimental Retinal Detachment

Wei Huang et al.

PLOS ONE (2013)

Article Ophthalmology

Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290

J. Jason McAnany et al.

JAMA OPHTHALMOLOGY (2013)

Article Biochemistry & Molecular Biology

Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy

Shannon M. Conley et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)

Article Biotechnology & Applied Microbiology

Native Molecular State of Adeno-Associated Viral Vectors Revealed by Single-Molecule Sequencing

Philipp Kapranov et al.

HUMAN GENE THERAPY (2012)

Article Biotechnology & Applied Microbiology

The Human Rhodopsin Kinase Promoter in an AAV5 Vector Confers Rod- and Cone-Specific Expression in the Primate Retina

Shannon E. Boye et al.

HUMAN GENE THERAPY (2012)

Article Ophthalmology

RPGR-Associated Retinal Degeneration in Human X-Linked RP and a Murine Model

Wei Chieh Huang et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)

Article Biochemistry & Molecular Biology

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

Lisa M. Baye et al.

HUMAN MOLECULAR GENETICS (2011)

Article Biochemistry & Molecular Biology

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

Carlos A. Murga-Zamalloa et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Ophthalmology

Human CRB1-Associated Retinal Degeneration: Comparison with the rd8 Crb1-Mutant Mouse Model

Tomas S. Aleman et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

Editorial Material Ophthalmology

From the Laboratory to the Clinic: Molecular Genetic Testing in Pediatric Ophthalmology

Arlene V. Drack et al.

AMERICAN JOURNAL OF OPHTHALMOLOGY (2010)

Article Biochemistry & Molecular Biology

Gene therapy rescues cone function in congenital achromatopsia

Andras M. Komaromy et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biochemistry & Molecular Biology

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

William Lostal et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biotechnology & Applied Microbiology

Evidence for the Failure of Adeno-associated Virus Serotype 5 to Package a Viral Genome >= 8.2kb

Yi Lai et al.

MOLECULAR THERAPY (2010)

Article Biotechnology & Applied Microbiology

Characterization of Genome Integrity for Oversized Recombinant AAV Vector

Biao Dong et al.

MOLECULAR THERAPY (2010)

Article Biotechnology & Applied Microbiology

Effect of Genome Size on AAV Vector Packaging

Zhijian Wu et al.

MOLECULAR THERAPY (2010)

Article Ophthalmology

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

Artur V. Cideciyan

PROGRESS IN RETINAL AND EYE RESEARCH (2010)

Article Ophthalmology

Differential Macular Morphology in Patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-Related Leber Congenital Amaurosis

Sirichai Pasadhika et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)

Article Multidisciplinary Sciences

Gene therapy for red-green colour blindness in adult primates

Katherine Mancuso et al.

NATURE (2009)

Article Biochemistry & Molecular Biology

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism

Samuel G. Jacobson et al.

HUMAN MOLECULAR GENETICS (2008)

Article Biochemistry & Molecular Biology

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

Tobias Schaefer et al.

HUMAN MOLECULAR GENETICS (2008)

Article Medicine, Research & Experimental

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

Mariacarmela Allocca et al.

JOURNAL OF CLINICAL INVESTIGATION (2008)

Article Medicine, General & Internal

Safety and efficacy of gene transfer for Leber's congenital amaurosis

Albert M. Maguire et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Medicine, General & Internal

Effect of gene therapy on visual function in Leber's congenital amaurosis

James W. B. Bainbridge et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Multidisciplinary Sciences

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

Artur V. Cideciyan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Review Ophthalmology

Leber congenital amaurosis: Genes, proteins and disease mechanisms

Anneke I. den Hollander et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2008)

Article Ophthalmology

Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments

Kecia L. Feathers et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)

Article Ophthalmology

AAV-Mediated expression targeting of rod and cone photoreceptors with a human rhodopsin kinase promoter

Shahrokh C. Khani et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)

Article Biochemistry & Molecular Biology

Restoration of cone vision in a mouse model of achromatopsia

John J. Alexander et al.

NATURE MEDICINE (2007)

Article Ophthalmology

In vivo three-dimensional high-resolution imaging of rodent retina with spectral-domain optical coherence tomography

Marco Ruggeri et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)

Article Ophthalmology

RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice

Andreas Wenzel et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)

Article Biotechnology & Applied Microbiology

Stable and efficient intraocular gene transfer using pseudotyped EIAV lentiviral vectors

K. S. Balaggan et al.

JOURNAL OF GENE MEDICINE (2006)

Article Biotechnology & Applied Microbiology

Efficient in vivo gene expression by trans-splicing adeno-associated viral vectors

Y Lai et al.

NATURE BIOTECHNOLOGY (2005)

Review Ophthalmology

Cellular remodeling in mammalian retina: results from studies of experimental retinal detachment

SK Fisher et al.

PROGRESS IN RETINAL AND EYE RESEARCH (2005)

Article Multidisciplinary Sciences

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

SG Jacobson et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)

Article Biochemistry & Molecular Biology

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

AK Mehalow et al.

HUMAN MOLECULAR GENETICS (2003)

Article Biotechnology & Applied Microbiology

Efficient mouse airway transduction following recombination between AAV vectors carrying parts of a larger gene

CL Halbert et al.

NATURE BIOTECHNOLOGY (2002)

Article Genetics & Heredity

Nrl is required for rod photoreceptor development

AJ Mears et al.

NATURE GENETICS (2001)

Article Biotechnology & Applied Microbiology

Expanding AAV packaging capacity with trans-splicing or overlapping vectors:: A quantitative comparison

DS Duan et al.

MOLECULAR THERAPY (2001)

Article Multidisciplinary Sciences

Trans-splicing vectors expand the utility of adeno-associated virus for gene therapy

ZY Yan et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)

Article Multidisciplinary Sciences

A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse

NB Akhmedov et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)