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。Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Safety and Efficacy in 15 Children and Adults Followed Up to 3 Years
Samuel G. Jacobson et al.
ARCHIVES OF OPHTHALMOLOGY (2012)
Neuroprotective Strategies for the Treatment of Inherited Photoreceptor Degeneration
D. Trifunovic et al.
CURRENT MOLECULAR MEDICINE (2012)
Early apoptosis of rod photoreceptors in Rpe65-/- mice is associated with the upregulated expression of lysosomal-mediated autophagic genes
Sylviane Metrailler et al.
EXPERIMENTAL EYE RESEARCH (2012)
Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa
Susanne Koch et al.
HUMAN MOLECULAR GENETICS (2012)
Chemistry and Biology of Vision
Krzysztof Palczewski
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Long-term expression of glial cell line-derived neurotrophic factor slows, but does not stop retinal degeneration in a model of retinitis pigmentosa
Masayuki Ohnaka et al.
JOURNAL OF NEUROCHEMISTRY (2012)
Differential Proteomics and Functional Research following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis
Qinxiang Zheng et al.
PLOS ONE (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)
Gene therapy in the second eye of RPE65-deficient dogs improves retinal function
M. J. Annear et al.
GENE THERAPY (2011)
Long-term Retinal Function and Structure Rescue Using Capsid Mutant AAV8 Vector in the rd10 Mouse, a Model of Recessive Retinitis Pigmentosa
Ji-jing Pang et al.
MOLECULAR THERAPY (2011)
AAV Mediated GDNF Secretion From Retinal Glia Slows Down Retinal Degeneration in a Rat Model of Retinitis Pigmentosa
Deniz Dalkara et al.
MOLECULAR THERAPY (2011)
Gene Therapy Regenerates Protein Expression in Cone Photoreceptors in Rpe65R91W1aR91W Mice
Corinne Kostic et al.
PLOS ONE (2011)
Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model
David L. Simons et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Gene Therapy Rescues Cone Structure and Function in the 3-Month-Old rd12 Mouse: A Model for Midcourse RPE65 Leber Congenital Amaurosis
Xia Li et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene
Edwin M. Stone et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Retinal Disease Course in Usher Syndrome 1B Due to MYO7A Mutations
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
The Genomic, Biochemical, and Cellular Responses of the Retina in Inherited Photoreceptor Degenerations and Prospects for the Treatment of These Disorders
Alexa N. Bramall et al.
ANNUAL REVIEW OF NEUROSCIENCE, VOL 33 (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)
Molecular Anthropology Meets Genetic Medicine to Treat Blindness in the North African Jewish Population: Human Gene Therapy Initiated in Israel
Eyal Banin et al.
HUMAN GENE THERAPY (2010)
Gene therapy rescues cone function in congenital achromatopsia
Andras M. Komaromy et al.
HUMAN MOLECULAR GENETICS (2010)
Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78
Marina. S. Gorbatyuk et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
Artur V. Cideciyan
PROGRESS IN RETINAL AND EYE RESEARCH (2010)
Altered Expression of Retinal Molecular Markers in the Canine RPE65 Model of Leber Congenital Amaurosis
Maria Hernandez et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Retinal Disease in Rpe65-Deficient Mice: Comparison to Human Leber Congenital Amaurosis Due to RPE65 Mutations
Rafael C. Caruso et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (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)
ABCA4 disease progression and a proposed strategy for gene therapy
Artur V. Cideciyan et al.
HUMAN MOLECULAR GENETICS (2009)
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
Mei Hong Tan et al.
HUMAN MOLECULAR GENETICS (2009)
Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate
Tadao Maeda et al.
HUMAN MOLECULAR GENETICS (2009)
Bax-Induced Apoptosis in Leber's Congenital Amaurosis: A Dual Role in Rod and Cone Degeneration
Severine Hamann et al.
PLOS ONE (2009)
Defining the Residual Vision in Leber Congenital Amaurosis Caused by RPE65 Mutations
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors in Rpe65-/- mouse model of Leber's Congenital Amaurosis
Sandra Cottet et al.
APOPTOSIS (2008)
Long-term effects of Aβ42 immunisation in Alzheimer's disease:: follow-up of a randomised, placebo-controlled phase I trial
Clive Holmes et al.
LANCET (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)
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene
Waldo Herrera et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
A Comprehensive Clinical and Biochemical Functional Study of a Novel RPE65 Hypomorphic Mutation
Birgit Lorenz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Photoreceptor layer topography in children with Leber congenital amaurosis caused by RPE65 mutations
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Human cone photoreceptor dependence on RPE65 isomerase
Samuel G. Jacobson et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation
Geoffrey K. Aguirre et al.
PLOS MEDICINE (2007)
Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium
G. Le Meur et al.
GENE THERAPY (2007)
Lentiviral gene transfer of Rpe65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis
Alexis-Pierre Bemelmans et al.
PLOS MEDICINE (2006)
Cortical visual function in the rd12 mouse model of Leber Congenital Amarousis (LCA) after gene replacement therapy to restore retinal function
S. Nusinowitz et al.
VISION RESEARCH (2006)
Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease
Sandra Cottet et al.
FASEB JOURNAL (2006)
Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection
Samuel G. Jacobson et al.
MOLECULAR THERAPY (2006)
Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis
JJ Pang et al.
MOLECULAR THERAPY (2006)
RPE65 gene delivery restores isomerohydrolase activity and prevents early cone loss in Rpe65-/- mice
Y Chen et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness
GM Acland et al.
MOLECULAR THERAPY (2005)
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)
In utero gene therapy rescues vision in a murine model of congenital blindness
NS Dejneka et al.
MOLECULAR THERAPY (2004)
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65
B Lorenz et al.
OPHTHALMOLOGY (2004)
Lifespan and mitochondrial control of neurodegeneration
AF Wright et al.
NATURE GENETICS (2004)
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis
ML Woodruff et al.
NATURE GENETICS (2003)
Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog
K Narfström et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)
FBO Porto et al.
JOURNAL OF GENE MEDICINE (2002)
Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness
JP Van Hooser et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
A one-hit model of cell death in inherited neuronal degenerations
G Clarke et al.
NATURE (2000)
分享论文
