Related references
Note: Only part of the references are listed.Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials
Malena Daich Varela et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2022)
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies
Katarzyna Nowomiejska et al.
ACTA OPHTHALMOLOGICA (2022)
CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA A Long-Term Follow-Up Study
Xuan-Thanh-An Nguyen et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2021)
Immune responses to retinal gene therapy using adeno-associated viral vectors-Implications for treatment success and safety
Kirsten Bucher et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2021)
Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing
Jingzhen Li et al.
NUCLEIC ACIDS RESEARCH (2021)
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model
Clarissa Patrizi et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2021)
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy
Michalis Georgiou et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions
Junwen Wang et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
Determinants of Disease Penetrance in PRPF31-Associated Retinopathy
Samuel McLenachan et al.
GENES (2021)
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration
Kiyoharu J. Miyagishima et al.
COMMUNICATIONS BIOLOGY (2021)
Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations
Qingqing Zhao et al.
ELIFE (2021)
Methods for in vitro CRISPR/CasRx-Mediated RNA Editing
Yu-Fan Chuang et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
Najiha Rahman et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2020)
PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture
Leila Azizzadeh Pormehr et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Novel molecular mechanisms for Prph2-associated pattern dystrophy
Dibyendu Chakraborty et al.
FASEB JOURNAL (2020)
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy
Gabrielle Wheway et al.
EXPERIMENTAL EYE RESEARCH (2020)
Oral N-acetylcysteine improves cone function in retinitis pigmentosa patients in phase I trial
Peter A. Campochiaro et al.
JOURNAL OF CLINICAL INVESTIGATION (2020)
RNA-Based Therapeutics: From Antisense Oligonucleotides to miRNAs
Sarah Bajan et al.
CELLS (2020)
Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1)
Lea D. Bennett et al.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2020)
Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy
Divya Sinha et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy
Ji Hwan Lee et al.
YONSEI MEDICAL JOURNAL (2020)
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
Jasdeep S. Gill et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2019)
Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa
Michalitsa Diakatou et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy
Andrea Milenkovic et al.
BIOLOGY OPEN (2019)
Autosomal Dominant Retinitis Pigmentosa Due to Class B Rhodopsin Mutations: An Objective Outcome for Future Treatment Trials
Alexander Sumaroka et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa
Kelly Kiser et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2019)
Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa
Vitor K. L. Takahashi et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2019)
Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier
Samuel McLenachan et al.
STEM CELL RESEARCH (2019)
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins
Lourdes Valdes-Sanchez et al.
MOLECULAR MEDICINE (2019)
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations
Changyi Ji et al.
SCIENTIFIC REPORTS (2019)
AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/- iPSC-Derived RPE Cells
Elizabeth M. Brydon et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2019)
Dual Ca2+-dependent gates in human Bestrophin1 underlie disease-causing mechanisms of gain-of-function mutations
Changyi Ji et al.
COMMUNICATIONS BIOLOGY (2019)
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum
Sanne K. Verbakel et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2019)
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery
Serena G. Giannelli et al.
HUMAN MOLECULAR GENETICS (2018)
Inhibiting autophagy reduces retinal degeneration caused by protein misfolding
Jingyu Yao et al.
AUTOPHAGY (2018)
Retinal gene therapy
Neruban Kumaran et al.
BRITISH MEDICAL BULLETIN (2018)
Reprogramming the metabolome rescues retinal degeneration
Karen Sophia Park et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2018)
Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa
Yi-Ting Tsai et al.
OPHTHALMOLOGY (2018)
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure
Karina E. Guziewicz et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
Johannes Birtel et al.
SCIENTIFIC REPORTS (2018)
Stimulation of AMPK prevents degeneration of photoreceptors and the retinal pigment epithelium
Lei Xu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)
Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa
Adriana Buskin et al.
NATURE COMMUNICATIONS (2018)
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families
Inmaculada Martin-Merida et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies A Long-Term Follow-up Study
Mays Talib et al.
OPHTHALMOLOGY (2017)
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Edwin M. Stone et al.
OPHTHALMOLOGY (2017)
Bestrophinopathy: An RPE-photoreceptor interface disease
Karina E. Guziewicz et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2017)
Targeting and silencing of rhodopsin by ectopic expression of the transcription factor KLF15
Salvatore Botta et al.
JCI INSIGHT (2017)
Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs)
Kerstin Nagel-Wolfrum et al.
BIODRUGS (2016)
Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa
Lijuan Zhang et al.
HUMAN MOLECULAR GENETICS (2016)
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa
Benjamin Bakondi et al.
MOLECULAR THERAPY (2016)
Course of Ocular Function in PRPF31 Retinitis Pigmentosa
Brian P. Hafler et al.
SEMINARS IN OPHTHALMOLOGY (2016)
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases
Fiona Blanco-Kelly et al.
PLOS ONE (2016)
Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2016)
High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
Gael Manes et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2015)
Genomic DNA nanoparticles rescue rhodopsin-associated retinitis pigmentosa phenotype
Zongchao Han et al.
FASEB JOURNAL (2015)
Pharmacological Modulation of Photoreceptor Outer Segment Degradation in a Human iPS Cell Model of Inherited Macular Degeneration
Ruchira Singh et al.
MOLECULAR THERAPY (2015)
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Gabrielle Wheway et al.
NATURE CELL BIOLOGY (2015)
Phenotypic Variability Associated with the D226N Allele of IMPDH1
Shahbaz Ali et al.
OPHTHALMOLOGY (2015)
Nonsense suppression by near-cognate tRNAs employs alternative base pairing at codon positions 1 and 3
Bijoyita Roy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Allele-Specific Inhibition of Rhodopsin With an Antisense Oligonucleotide Slows Photoreceptor Cell Degeneration
Susan F. Murray et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Mutations in Pre-mRNA Processing Factors 3, 8, and 31 Cause Dysfunction of the Retinal Pigment Epithelium
Michael H. Farkas et al.
AMERICAN JOURNAL OF PATHOLOGY (2014)
P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis
Sanae Sakami et al.
HUMAN MOLECULAR GENETICS (2014)
Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects
Shannon M. Conley et al.
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2014)
A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations
Kaoru Fujinami et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2013)
Mutation-independent rescue of a novel mouse model of Retinitis Pigmentosa
D. L. Greenwald et al.
GENE THERAPY (2013)
Multiplex Genome Engineering Using CRISPR/Cas Systems
Le Cong et al.
SCIENCE (2013)
Prevalence of Mutations in eyeGENE Probands With a Diagnosis of Autosomal Dominant Retinitis Pigmentosa
Lori S. Sullivan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Roles of the mammalian target of rapamycin, mTOR, in controlling ribosome biogenesis and protein synthesis
Valentina Iadevaia et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2012)
Long-Term Rescue of Retinal Structure and Function by Rhodopsin RNA Replacement with a Single Adeno-Associated Viral Vector in P23H RHO Transgenic Mice
Haoyu Mao et al.
HUMAN GENE THERAPY (2012)
RP1 and Autosomal Dominant Rod-Cone Dystrophy: Novel Mutations, a Review of Published Variants, and Genotype-Phenotype Correlation
Isabelle Audo et al.
HUMAN MUTATION (2012)
Instability of C60 fullerene interacting with lipid bilayer
Duangkamon Baowan et al.
JOURNAL OF MOLECULAR MODELING (2012)
Pharmacological Enhancement of ex vivo Gene Therapy Neuroprotection in a Rodent Model of Retinal Degeneration
Kevin Gregory-Evans et al.
OPHTHALMIC RESEARCH (2012)
Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype
Qin Liu et al.
PLOS ONE (2012)
Rhodopsin Gene Expression Determines Rod Outer Segment Size and Rod Cell Resistance to a Dominant-Negative Neurodegeneration Mutant
Brandee A. Price et al.
PLOS ONE (2012)
Zinc-finger-based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa
Claudio Mussolino et al.
EMBO MOLECULAR MEDICINE (2011)
PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa
Goranka Tanackovic et al.
HUMAN MOLECULAR GENETICS (2011)
Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa
Sophia Millington-Ward et al.
MOLECULAR THERAPY (2011)
AAV-mediated knockdown of Peripherin-2 in vivo using miRNA-based hairpins
A. Georgiadis et al.
GENE THERAPY (2010)
A Partial Structural and Functional Rescue of a Retinitis Pigmentosa Model with Compacted DNA Nanoparticles
Xue Cai et al.
PLOS ONE (2009)
Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa
K. Guerin et al.
EXPERIMENTAL EYE RESEARCH (2008)
Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)
Lawrence C. S. Tam et al.
HUMAN MOLECULAR GENETICS (2008)
Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa
Hugo F. Mendes et al.
HUMAN MOLECULAR GENETICS (2008)
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
Carniel J. F. Boon et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
Disease Course in Patients with Autosomal Recessive Retinitis Pigmentosa due to the USH2A Gene
Michael A. Sandberg et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Bestrophin gene mutations cause canine multifocal retinopathy: A novel animal model for best disease
Karina E. Guziewicz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Molecular and cellular alterations induced by sustained expression of ciliary neurotrophic factor in a mouse model of retinitis pigmentosa
Kun Do Rhee et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
N-acetylcysteine and neurodegenerative diseases: Basic and clinical pharmacology
Motoki Arakawa et al.
CEREBELLUM (2007)
RNAi-based suppression and replacement of rds-peripherin in retinal organotypic culture
A Palfi et al.
HUMAN MUTATION (2006)
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis
SJ Bowne et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?
Sara J. Bowne et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells
R Rosenthal et al.
FASEB JOURNAL (2005)
The Cys214 → Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice
HM Stricker et al.
BIOCHEMICAL JOURNAL (2005)
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn
Y Wada et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa
S Khaliq et al.
JOURNAL OF MEDICAL GENETICS (2005)
Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy
HF Mendes et al.
TRENDS IN MOLECULAR MEDICINE (2005)
On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa
A Aherne et al.
HUMAN MOLECULAR GENETICS (2004)
Modulating expression of peripherin/rds in transgenic mice:: Critical levels and the effect of overexpression
M Nour et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
The supramolecular structure of the GPCR rhodopsin in solution and native disc membranes
K Suda et al.
MOLECULAR MEMBRANE BIOLOGY (2004)
RP1 is required for the correct stacking of outer segment discs
Q Liu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
Effects of adeno-associated virus-vectored ciliary neurotrophic factor on retinal structure and function in mice with a P216L rds/peripherin mutation
D Bok et al.
EXPERIMENTAL EYE RESEARCH (2002)
Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene
N McNally et al.
HUMAN MOLECULAR GENETICS (2002)
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
SJ Bowne et al.
HUMAN MOLECULAR GENETICS (2002)
Glial cell line derived neurotrophic factor delays photoreceptor degeneration in a transgenic rat model of retinitis pigmentosa
LHM Sanftner et al.
MOLECULAR THERAPY (2001)
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
F Krämer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2000)