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。The Rpe65rd12 Allele Exerts a Semidominant Negative Effect on Vision in Mice
Charles B. Wright et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Secretory Defect and Cytotoxicity THE POTENTIAL DISEASE MECHANISMS FOR THE RETINITIS PIGMENTOSA (RP)-ASSOCIATED INTERPHOTORECEPTOR RETINOID-BINDING PROTEIN (IRBP)
Songhua Li et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Receptor Interacting Protein Kinase-Mediated Necrosis Contributes to Cone and Rod Photoreceptor Degeneration in the Retina Lacking Interphotoreceptor Retinoid-Binding Protein
Kota Sato et al.
JOURNAL OF NEUROSCIENCE (2013)
Fatty Acid Transport Protein 4 (FATP4) Prevents Light-Induced Degeneration of Cone and Rod Photoreceptors by Inhibiting RPE65 Isomerase
Songhua Li et al.
JOURNAL OF NEUROSCIENCE (2013)
Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration
Ekaterina S. Lobanova et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
Complementation Test of Rpe65 Knockout and Tvrm148
Charles B. Wright et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
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)
Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death
Deborah L. Duricka et al.
BIOCHEMICAL JOURNAL (2012)
Structure of RPE65 isomerase in a lipidic matrix reveals roles for phospholipids and iron in catalysis
Philip D. Kiser et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
Sara J. Bowne et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma
Gulab S. Zode et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Mouse Model Resources for Vision Research
Jungyeon Won et al.
JOURNAL OF OPHTHALMOLOGY (2011)
Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65
Olga Nikolaeva et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)
Molecular signature of primary retinal pigment epithelium and stem-cell-derived RPE cells
Jo-Ling Liao et al.
HUMAN MOLECULAR GENETICS (2010)
Importance of Membrane Structural Integrity for RPE65 Retinoid Isomerization Activity
Marcin Golczak et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Purified RPE65 shows isomerohydrolase activity after reassociation with a phospholipid membrane
Olga Nikolaeva et al.
FEBS JOURNAL (2009)
Predicting the Pathogenicity of RPE65 Mutations
A. R. Philpa et al.
HUMAN MUTATION (2009)
Identification of a Novel Palmitylation Site Essential for Membrane Association and Isomerohydrolase Activity of RPE65
Yusuke Takahashi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
The Role of Interphotoreceptor Retinoid-Binding Protein on the Translocation of Visual Retinoids and Function of Cone Photoreceptors
Minghao Jin et al.
JOURNAL OF NEUROSCIENCE (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)
Ubiquitination of mammalian AP endonuclease (APE1) regulated by the p53-MDM2 signaling pathway
C. S. Busso et al.
ONCOGENE (2009)
Crystal structure of native RPE65, the retinoid isomerase of the visual cycle
Philip D. Kiser et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (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)
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)
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal
Marijana Samardzija et al.
HUMAN MOLECULAR GENETICS (2008)
Inhibitors of ubiquitin-activating enzyme (E1), a new class of potential cancer therapeutics
Yili Yang et al.
CANCER RESEARCH (2007)
Role of LRAT on the retinoid isomerase activity and membrane association of Rpe65
Minghao Jin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity
Yusuke Takahashi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65
Ying Chen et al.
FEBS LETTERS (2006)
Temperature sensitive secretion of mutant myocilins
Douglas Vollrath et al.
EXPERIMENTAL EYE RESEARCH (2006)
Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium
Y Takahashi et al.
FEBS LETTERS (2005)
Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle
TM Redmond et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
RPE65 is the isomerohydrolase in the retinoid visual cycle
G Moiseyev et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium
MH Jin et al.
CELL (2005)
Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17
G Bonapace et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells
MK Joe et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2003)
Retinyl esters are the substrate for isomerohydrolase
G Moiseyev et al.
BIOCHEMISTRY (2003)
A proteasomal ATPase subunit recognizes the polyubiquitin degradation signal
YA Lam et al.
NATURE (2002)
分享论文
