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。Inherited Retinal Degeneration: PARP-Dependent Activation of Calpain Requires CNG Channel Activity
Jie Yan et al.
BIOMOLECULES (2022)
Kinase activity profiling identifies putative downstream targets of cGMP/PKG signaling in inherited retinal neurodegeneration
Akanksha Roy et al.
CELL DEATH DISCOVERY (2022)
Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis
Amy Leung et al.
STEM CELL REPORTS (2022)
cGMP Analogues with Opposing Actions on CNG Channels Selectively Modulate Rod or Cone Photoreceptor Function
Sophie Wucherpfennig et al.
PHARMACEUTICS (2022)
Photoreceptor phosphodiesterase (PDE6): activation and inactivation mechanisms during visual transduction in rods and cones
Rick H. Cote
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2021)
AAV-Mediated Gene Delivery to 3D Retinal Organoids Derived from Human Induced Pluripotent Stem Cells
Marcela Garita-Hernandez et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1
Dunja Lukovic et al.
SCIENTIFIC REPORTS (2020)
Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
Amelia Lane et al.
STEM CELL REPORTS (2020)
Clinical and functional analyses of AIPL1 variants reveal mechanisms of pathogenicity linked to different forms of retinal degeneration
Almudena Sacristan-Reviriego et al.
SCIENTIFIC REPORTS (2020)
Voretigene Neparvovec in Retinal Diseases: A Review of the Current Clinical Evidence
Jie Gao et al.
CLINICAL OPHTHALMOLOGY (2020)
Targeting molecular pathways for the treatment of inherited retinal degeneration
Meltem Kutluer et al.
NEURAL REGENERATION RESEARCH (2020)
Ocular gene therapies in clinical practice: viral vectors and nonviral alternatives
Thierry Bordet et al.
DRUG DISCOVERY TODAY (2019)
The cGMP Pathway and Inherited Photoreceptor Degeneration: Targets, Compounds, and Biomarkers
Arianna Tolone et al.
GENES (2019)
Interaction of the tetratricopeptide repeat domain of aryl hydrocarbon receptor?interacting protein?like 1 with the regulatory P? subunit of phosphodiesterase 6
Ravi P. Yadav et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
Assessment of AAV Vector Tropisms for Mouse and Human Pluripotent Stem Cell-Derived RPE and Photoreceptor Cells
Anai Gonzalez-Cordero et al.
HUMAN GENE THERAPY (2018)
Combination of cGMP analogue and drug delivery system provides functional protection in hereditary retinal degeneration
Eleonora Vighi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Generation of a human iPSC line from a patient with Leber congenital amaurosis caused by mutation in AIPL1
Dunja Lukovic et al.
STEM CELL RESEARCH (2018)
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6
Almudena Sacristan-Reviriego et al.
HUMAN MOLECULAR GENETICS (2017)
Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34
Ayse Sahaboglu et al.
PLOS ONE (2017)
Unique structural features of the AIPL1-FKBP domain that support prenyl lipid binding and underlie protein malfunction in blindness
Ravi P. Yadav et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors
Anai Gonzalez-Cordero et al.
STEM CELL REPORTS (2017)
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
Neruban Kumaran et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2017)
Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine
Maximilian W. Popp et al.
CELL (2016)
Extended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease
Ravi P. Yadav et al.
JOURNAL OF NEUROCHEMISTRY (2015)
The Status of RPE65 Gene Therapy Trials: Safety and Efficacy
Eric A. Pierce et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2015)
Simultaneous Reprogramming and Gene Correction of Patient Fibroblasts
Sara E. Howden et al.
STEM CELL REPORTS (2015)
AIPL1, A protein linked to blindness, is essential for the stability of enzymes mediating cGMP metabolism in cone photoreceptor cells
Saravanan Kolandaivelu et al.
HUMAN MOLECULAR GENETICS (2014)
Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs
Xiufeng Zhong et al.
NATURE COMMUNICATIONS (2014)
Early Alteration of Retinal Neurons in Aipl1-/- Animals
Ratnesh Kumar Singh et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Interaction of Aryl Hydrocarbon Receptor-interacting Protein-like 1 with the Farnesyl Moiety
Anurima Majumder et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Genome engineering using the CRISPR-Cas9 system
F. Ann Ran et al.
NATURE PROTOCOLS (2013)
Novel adeno-associated viral vectors for retinal gene therapy
L. H. Vandenberghe et al.
GENE THERAPY (2012)
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy
Francesco Testa 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)
The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells
Lindsay T. Kirschman et al.
HUMAN MOLECULAR GENETICS (2010)
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)
AIPL1, a Protein Associated with Childhood Blindness, Interacts with α-Subunit of Rod Phosphodiesterase (PDE6) and Is Essential for Its Proper Assembly
Saravanan Kolandaivelu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
PKG activity causes photoreceptor cell death in two retinitis pigmentosa models
Francois Paquet-Durand et al.
JOURNAL OF NEUROCHEMISTRY (2009)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex
Juan Hidalgo-de-Quintana et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase
XQ Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
V Ramamurthy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
J van der Spuy et al.
HUMAN MOLECULAR GENETICS (2002)
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
MM Sohocki et al.
NATURE GENETICS (2000)