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。Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants
Samuel G. Jacobson et al.
HUMAN MOLECULAR GENETICS (2013)
Three-Year Follow-up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2
Francesco Testa et al.
OPHTHALMOLOGY (2013)
AAV9 Targets Cone Photoreceptors in the Nonhuman Primate Retina
Luk H. Vandenberghe et al.
PLOS ONE (2013)
Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
Artur V. Cideciyan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Educational paper Retinal dystrophies and gene therapy
Venki Sundaram et al.
EUROPEAN JOURNAL OF PEDIATRICS (2012)
Novel adeno-associated viral vectors for retinal gene therapy
L. H. Vandenberghe et al.
GENE THERAPY (2012)
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)
Restoration of Vision in the pde6β-deficient Dog, a Large Animal Model of Rod-cone Dystrophy
Lolita Petit et al.
MOLECULAR THERAPY (2012)
Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa
William A. Beltran et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
AAV-mediated photoreceptor transduction of the pig cone-enriched retina
C. Mussolino et al.
GENE THERAPY (2011)
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
Marija Mihelec et al.
HUMAN GENE THERAPY (2011)
The human visual cortex responds to gene therapy-mediated recovery of retinal function
Manzar Ashtari et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
MicroRNA-Restricted Transgene Expression in the Retina
Marianthi Karali et al.
PLOS ONE (2011)
Dosage Thresholds for AAV2 and AAV8 Photoreceptor Gene Therapy in Monkey
Luk H. Vandenberghe et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Modulation of rod photoreceptor output by HCN1 channels is essential for regular mesopic cone vision
Mathias W. Seeliger et al.
NATURE COMMUNICATIONS (2011)
Long-term Preservation of Cone Photoreceptors and Restoration of Cone Function by Gene Therapy in the Guanylate Cyclase-1 Knockout (GC1KO) Mouse
Sanford L. Boye et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations
X. Sun et al.
GENE THERAPY (2010)
Replacement Gene Therapy with a Human RPGRIP1 Sequence Slows Photoreceptor Degeneration in a Murine Model of Leber Congenital Amaurosis
Basil S. Pawlyk et al.
HUMAN GENE THERAPY (2010)
Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
Anneke I. den Hollander et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
Francesca Simonelli et al.
MOLECULAR THERAPY (2010)
Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse
Shannon E. Boye et al.
PLOS ONE (2010)
Differential Macular Morphology in Patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-Related Leber Congenital Amaurosis
Sirichai Pasadhika et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Human RPE65 Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year
Artur V. Cideciyan et al.
HUMAN GENE THERAPY (2009)
Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial
Albert M. Maguire et al.
LANCET (2009)
Gene therapy for red-green colour blindness in adult primates
Katherine Mancuso et al.
NATURE (2009)
Vision 1 Year after Gene Therapy for Leber's Congenital Amaurosis
Artur V. Cideciyan et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
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
William W. Hauswirth et al.
HUMAN GENE THERAPY (2008)
Novel AAV serotypes for improved ocular gene transfer
Corinna Lebherz et al.
JOURNAL OF GENE MEDICINE (2008)
Safety and efficacy of gene transfer for Leber's congenital amaurosis
Albert M. Maguire et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Effect of gene therapy on visual function in Leber's congenital amaurosis
James W. B. Bainbridge et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
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)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
Versatility of AAV vectors for retinal gene transfer
Enrico M. Surace et al.
VISION RESEARCH (2008)
Novel adeno-associated virus serotypes efficiently transduce murine Photoreceptors
Mariacarmela Allocca et al.
JOURNAL OF VIROLOGY (2007)
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)
A typology of photoreceptor gene expression patterns in the mouse
Joseph C. Corbo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors
Wolfgang Baehr et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Identification and characterization of MicroRNAs expressed in the mouse eye
Marianthi Karali et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
A short, highly active photoreceptor-specific enhancer/promoter region upstream of the human rhodopsin kinase gene
JE Young et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
Distribution and density of medium- and short-wavelength selective cones in the domestic pig retina
A Hendrickson et al.
EXPERIMENTAL EYE RESEARCH (2002)
Species-specific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: Implications for cone cell phototransduction
ER Weiss et al.
JOURNAL OF NEUROSCIENCE (2001)
Spectrum of retGC1 mutations in Leber's congenital amaurosis
I Perrault et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)
Recent advances in the molecular basis of inherited photoreceptor degeneration
G Clarke et al.
CLINICAL GENETICS (2000)
分享论文
