Related references
Note: Only part of the references are listed.Randomised study evaluating the pharmacodynamics of emixustat hydrochloride in subjects with macular atrophy secondary to Stargardt disease
Ryo Kubota et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2022)
Long-term safety and tolerability of subretinal transplantation of embryonic stem cell-derived retinal pigment epithelium in Asian Stargardt disease patients
Youngje Sung et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2021)
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies
Josephine Prener Holtan et al.
ACTA OPHTHALMOLOGICA (2021)
Stargardt misdiagnosis: How ocular genetics helps
Manuel Benjamin Ibanez et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration
Fabian A. Garces et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Gene therapy for inherited retinal diseases: progress and possibilities
Monica L. Hu et al.
CLINICAL AND EXPERIMENTAL OPTOMETRY (2021)
Peripheral pigmented lesions in ABCA4-associated retinopathy
Haya H. Al-Ani et al.
OPHTHALMIC GENETICS (2021)
Molecular structures of the eukaryotic retinal importer ABCA4
Fangyu Liu et al.
ELIFE (2021)
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report
Saoud Al-Khuzaei et al.
BMC OPHTHALMOLOGY (2021)
Reevaluating the Association of Sex With ABCA4 Alleles in Patients With Stargardt Disease
Winston Lee et al.
JAMA OPHTHALMOLOGY (2021)
The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions
Saoud Al-Khuzaei et al.
THERAPEUTIC ADVANCES IN OPHTHALMOLOGY (2021)
Non-viral Gene Therapy for Stargardt Disease with ECO/pRHO-ABCA4 Self-Assembled Nanoparticles
Da Sun et al.
MOLECULAR THERAPY (2020)
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options
Najiha Rahman et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2020)
ABCA4-Associated Stargardt Disease
Mubeen Khan et al.
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE (2020)
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate
Jane S. Green et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan et al.
GENETICS IN MEDICINE (2020)
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
Frans P. M. Cremers et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2020)
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Mital Shah et al.
JAMA OPHTHALMOLOGY (2020)
Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration
Susan B. Curtis et al.
HUMAN MUTATION (2020)
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease
Esmee H. Runhart et al.
JAMA OPHTHALMOLOGY (2020)
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
Mubeen Khan et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2020)
Penetration, distribution, and elimination of remofuscin/soraprazan in Stargardt mouse eyes following a single intravitreal injection using pharmacokinetics and transmission electron microscopic autoradiography: Implication for the local treatment of Stargardt's disease and dry age-related macular degeneration
Sylvie Julien-Schraermeyer et al.
PHARMACOLOGY RESEARCH & PERSPECTIVES (2020)
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8
Kaoru Fujinami et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2019)
Clinical and Genetic Characteristics Analysis of Korean Patients with Stargardt Disease Using Targeted Exome Sequencing
Youngje Sung et al.
OPHTHALMOLOGICA (2019)
Gene therapy for visual loss: Opportunities and concerns
Jia Hui Lee et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2019)
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1
Marta Del Pozo-Valero et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2019)
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants
Charles J. Wolock et al.
GENETICS IN MEDICINE (2019)
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease
Mubeen Khan et al.
HUMAN MUTATION (2019)
Highly Variable Disease Courses in Siblings with Stargardt Disease
Dyon Valkenburg et al.
OPHTHALMOLOGY (2019)
Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease
Alejandro Garanto et al.
GENES (2019)
Dual ABCA4-AAV Vector Treatment Reduces Pathogenic Retinal A2E Accumulation in a Mouse Model of Autosomal Recessive Stargardt Disease
Frank M. Dyka et al.
HUMAN GENE THERAPY (2019)
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
Fang-Yuan Hu et al.
FRONTIERS IN GENETICS (2019)
Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved One-Hit Cohort with Stargardt Disease
Marco Nassisi et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy
Marco Piccardi et al.
NUTRIENTS (2019)
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland
Anna M. Tracewska et al.
GENES (2019)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (2019)
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Riccardo Sangermano et al.
GENETICS IN MEDICINE (2019)
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
Miriam Bauwens et al.
GENETICS IN MEDICINE (2019)
An AAV Dual Vector Strategy Ameliorates the Stargardt Phenotype in Adult Abca4-/- Mice
Michelle E. McClements et al.
HUMAN GENE THERAPY (2019)
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Artur V. Cideciyan et al.
NATURE MEDICINE (2019)
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles
Esmee H. Runhart et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2019)
Oral Delivery of the P2Y12 Receptor Antagonist Ticagrelor Prevents Loss of Photoreceptors in an ABCA4-/- Mouse Model of Retinal Degeneration
Wennan Lu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2019)
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
Riccardo Sangermano et al.
GENOME RESEARCH (2018)
Chemistry, mechanism and clinical status of antisense oligonucleotides and duplex RNAs
Xiulong Shen et al.
NUCLEIC ACIDS RESEARCH (2018)
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing
Frida Jonsson et al.
ACTA OPHTHALMOLOGICA (2018)
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
Silvia Albert et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Retinal gene therapy
Neruban Kumaran et al.
BRITISH MEDICAL BULLETIN (2018)
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290
Lonneke Duijkers et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2018)
Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy
Ian M. MacDonald et al.
OPHTHALMIC GENETICS (2018)
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy
Kamron N. Khan et al.
OPHTHALMOLOGY (2018)
The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease
Koji Tanaka et al.
OPHTHALMOLOGY (2018)
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration
Manjit S. Mehat et al.
OPHTHALMOLOGY (2018)
The P2Y12 Receptor Antagonist Ticagrelor Reduces Lysosomal pH and Autofluorescence in Retinal Pigmented Epithelial Cells From the ABCA4-/- Mouse Model of Retinal Degeneration
Wennan Lu et al.
FRONTIERS IN PHARMACOLOGY (2018)
Deep Scleral Exposure: A Degenerative Outcome of End-Stage Stargardt Disease
Winston Lee et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2018)
Suprachoroidal Adipose Tissue-Derived Mesenchymal Stem Cell Implantation in Patients with Dry-Type Age-Related Macular Degeneration and Stargardt's Macular Dystrophy: 6-Month Follow-Up Results of a Phase 2 Study
Ayse Oner et al.
CELLULAR REPROGRAMMING (2018)
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
Jana Zernant et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2018)
Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease
Fabian Garces et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants
Esmee H. Runhart et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
Author Response: Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease
Frans P. M. Cremers et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level
Ingvild Aukrust et al.
ACTA OPHTHALMOLOGICA (2017)
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases
Stephanie S. Cornelis et al.
HUMAN MUTATION (2017)
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
Jana Zernant et al.
JOURNAL OF MEDICAL GENETICS (2017)
Visual Acuity Change over 12 Months in the Prospective Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Study
Xiangrong Kong et al.
OPHTHALMOLOGY (2017)
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
Suzanne Broadgate et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2017)
Vectors and Gene Delivery to the Retina
Arthur Planul et al.
ANNUAL REVIEW OF VISION SCIENCE, VOL 3 (2017)
Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness
Avery E. Sears et al.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2017)
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies
Ayse Oner
TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY (2017)
The Role of Gene Therapy in the Treatment of Retinal Diseases: A Review
C. Campa et al.
CURRENT GENE THERAPY (2017)
The Epidemiology of Stargardt Disease in the United Kingdom
Kurt Spiteri Cornish et al.
OPHTHALMOLOGY RETINA (2017)
Progression of Visual Acuity and Fundus Autofluorescence in Recent-Onset Stargardt Disease: ProgStar Study Report #4
Xiangrong Kong et al.
OPHTHALMOLOGY RETINA (2017)
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs
Heidi L. Schulz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2017)
Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy
Kalev Noupuu et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2016)
CFH Y402H polymorphism and the complement activation product C5a: effects on NF-κB activation and inflammasome gene regulation
Sijia Cao et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2016)
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe
Aneta Sciezynska et al.
EXPERIMENTAL EYE RESEARCH (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Lessons from non-canonical splicing
Christopher R. Sibley et al.
NATURE REVIEWS GENETICS (2016)
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T → C Mutation in Stargardt Disease
Riccardo Sangermano et al.
OPHTHALMOLOGY (2016)
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies Design and Baseline Characteristics: ProgStar Report No. 1
Rupert W. Strauss et al.
OPHTHALMOLOGY (2016)
Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2)
Xiangrong Kong et al.
OPHTHALMOLOGY (2016)
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
Sarah Hull et al.
JAMA OPHTHALMOLOGY (2016)
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation
Radulfus WN Slijkerman et al.
Molecular Therapy-Nucleic Acids (2016)
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1
Tobias Bonifert et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2016)
The Effect of Light Deprivation in Patients With Stargardt Disease
Michel M. Teussink et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2015)
A decade of structural variants: description, history and methods to detect structural variation
Georgia Escaramis et al.
BRIEFINGS IN FUNCTIONAL GENOMICS (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease
Ivana Trapani et al.
HUMAN MOLECULAR GENETICS (2015)
Human embryonic stem cell-derived retinal pigment epithelium in patients with age-related macular degeneration and Stargardt's macular dystrophy: follow-up of two open-label phase 1/2 studies
Steven D. Schwartz et al.
LANCET (2015)
Early-Onset Stargardt Disease Phenotypic and Genotypic Characteristics
Stanley Lambertus et al.
OPHTHALMOLOGY (2015)
Quantitative Fundus Autofluorescence Distinguishes ABCA4-Associated and Non-ABCA4-Associated Bull's-Eye Maculopathy
Tobias Duncker et al.
OPHTHALMOLOGY (2015)
Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease
Kaoru Fujinami et al.
OPHTHALMOLOGY (2015)
Rescue of the Stargardt phenotype in Abca4 knockout mice through inhibition of vitamin A dimerization
Peter Charbel Issa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Treatment of Macular Degeneration Using Embryonic Stem Cell-Derived Retinal Pigment Epithelium: Preliminary Results in Asian Patients
Won Kyung Song et al.
STEM CELL REPORTS (2015)
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions
Jacques Zaneveld et al.
GENETICS IN MEDICINE (2015)
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients
Miriam Bauwens et al.
HUMAN MUTATION (2015)
Visual Cycle Modulation as an Approach toward Preservation of Retinal Integrity
Claes Bavik et al.
PLOS ONE (2015)
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap
Tobias Duncker et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease
Virginia Miraldi Utz et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2014)
Effective delivery of large genes to the retina by dual AAV vectors
Ivana Trapani et al.
EMBO MOLECULAR MEDICINE (2014)
Efficient gene delivery to the cone-enriched pig retina by dual AAV vectors
P. Colella et al.
GENE THERAPY (2014)
Analysis of the ABCA4 genomic locus in Stargardt disease
Jana Zernant et al.
HUMAN MOLECULAR GENETICS (2014)
Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients
Jana Zernant et al.
HUMAN MUTATION (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Use of lentiviral vectors to deliver and express bicistronic transgenes in developing chicken embryos
Susan L. Semple-Rowland et al.
METHODS (2014)
Macular Function and Morphologic Features in Juvenile Stargardt Disease Longitudinal Study
Francesco Testa et al.
OPHTHALMOLOGY (2014)
ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal
Faraz Quazi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Vector platforms for gene therapy of inherited retinopathies
Ivana Trapani et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2014)
Dual Adeno-Associated Virus Vectors Result in Efficient In Vitro and In Vivo Expression of an Oversized Gene, MYO7A
Frank M. Dyka et al.
HUMAN GENE THERAPY METHODS (2014)
Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4-Associated Retinopathies
Mette Bertelsen et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function
Kaoru Fujinami et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2013)
Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family
Frida Jonsson et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
Stargardt Disease: towards developing a model to predict phenotype
Laura Heathfield et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2013)
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation
Oscar F. Chacon-Camacho et al.
EXPERIMENTAL EYE RESEARCH (2013)
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
Terry A. Braun et al.
HUMAN MOLECULAR GENETICS (2013)
The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients
Kaoru Fujinami et al.
OPHTHALMOLOGY (2013)
Molecular Organization and ATP-Induced Conformational Changes of ABCA4, the Photoreceptor-Specific ABC Transporter
Yaroslav Tsybovsky et al.
STRUCTURE (2013)
A1120, a Nonretinoid RBP4 Antagonist, Inhibits Formation of Cytotoxic Bisretinoids in the Animal Model of Enhanced Retinal Lipofuscinogenesis
Nicoleta Dobri et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
A Longitudinal Study of Stargardt Disease: Quantitative Assessment of Fundus Autofluorescence, Progression, and Genotype Correlations
Kaoru Fujinami et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Transduction of Photoreceptors With Equine Infectious Anemia Virus Lentiviral Vectors: Safety and Biodistribution of StarGen for Stargardt Disease
Katie Binley et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Detection Rate of Pathogenic Mutations in ABCA4 Using Direct Sequencing: Clinical and Research Implications
Susan M. Downes et al.
ARCHIVES OF OPHTHALMOLOGY (2012)
Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
Stephanie Halford et al.
ARCHIVES OF OPHTHALMOLOGY (2012)
Molecular diagnosis of putative Stargardt disease probands by exome sequencing
Samuel P. Strom et al.
BMC MEDICAL GENETICS (2012)
Non-viral retinal gene therapy: a review
Peter Charbel Issa et al.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2012)
Educational paper Retinal dystrophies and gene therapy
Venki Sundaram et al.
EUROPEAN JOURNAL OF PEDIATRICS (2012)
Clinical and molecular genetic study of 12 Italian families with autosomal recessive Stargardt disease
M. Oldani et al.
GENETICS AND MOLECULAR RESEARCH (2012)
DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice
Zongchao Han et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Primary amines protect against retinal degeneration in mouse models of retinopathies
Akiko Maeda et al.
NATURE CHEMICAL BIOLOGY (2012)
Lipofuscin can be eliminated from the retinal pigment epithelium of monkeys
Sylvie Julien et al.
NEUROBIOLOGY OF AGING (2012)
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy
Morten Duno et al.
OPHTHALMIC GENETICS (2012)
Clinical and Genetic Characteristics of Late-onset Stargardt's Disease
Sarah C. Westeneng-van Haaften et al.
OPHTHALMOLOGY (2012)
ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer
Faraz Quazi et al.
NATURE COMMUNICATIONS (2012)
The lipid translocase, ABCA4: seeing is believings
Naomi Laura Pollock et al.
FEBS JOURNAL (2011)
Deuterium Enrichment of Vitamin A at the C20 Position Slows the Formation of Detrimental Vitamin A Dimers in Wild-type Rodents
Yardana Kaufman et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
C20-D3-vitamin A Slows Lipofuscin Accumulation and Electrophysiological Retinal Degeneration in a Mouse Model of Stargardt Disease
Li Ma et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Analysis of the ABCA4 Gene by Next-Generation Sequencing
Jana Zernant et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Novel mutations in of the ABCR gene in italian patients with Stargardt disease
I. Passerini et al.
EYE (2010)
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
Emily I. Schindler et al.
HUMAN MOLECULAR GENETICS (2010)
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration
Robert S. Molday et al.
PROGRESS IN LIPID RESEARCH (2010)
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration
Robert S. Molday et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2009)
Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants
J. Aguirre-Lamban et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2009)
ABCA4 disease progression and a proposed strategy for gene therapy
Artur V. Cideciyan et al.
HUMAN MOLECULAR GENETICS (2009)
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice (vol 118, pg 2908, 2008)
Zhenglin Yang et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy
J. Kong et al.
GENE THERAPY (2008)
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
Zhenglin Yang et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following vitamin A supplementation
Roxana A. Radu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus
Camiel J. F. Boon et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2007)
De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy
Stefania Stenirri et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2006)
Case of Stargardt disease caused by uniparental isodisomy
HF John et al.
ARCHIVES OF OPHTHALMOLOGY (2006)
Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: A potential therapy for treatment of lipofuscin-based retinal diseases
RA Radu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease
J Hargitai et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina
AV Cideciyan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
RPE lipofuscin and its role in retinal-pathobiology
JR Sparrow et al.
EXPERIMENTAL EYE RESEARCH (2005)
Towards safe, non-viral therapeutic gene expression in humans
DJ Glover et al.
NATURE REVIEWS GENETICS (2005)
N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR)
S Beharry et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy
A Maugeri et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus
N Lois et al.
AMERICAN JOURNAL OF OPHTHALMOLOGY (2004)
Mutation spectrum and founder chromosomes for the ABC44 gene in South African patients with Stargardt disease
AV September et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family
F Simonelli et al.
OPHTHALMIC RESEARCH (2004)
An ABCA4 genomic deletion in patients with Stargardt Disease
AN Yatsenko et al.
HUMAN MUTATION (2003)
Treatment with isotretinoin inhibits lipofuscin accumulation in a mouse model of recessive Stargardt's macular degeneration
RA Radu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4
M Michaelides et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
K Jaakson et al.
HUMAN MUTATION (2003)
The ABCA4 2588G > C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
A Maugeri et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2002)
Biosynthetic studies of A2E, a major fluorophore of retinal pigment epithelial lipofuscin
S Ben-Shabat et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
NF Shroyer et al.
HUMAN MOLECULAR GENETICS (2001)
Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina
JK McBee et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2001)
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)
AN Yatsenko et al.
HUMAN GENETICS (2001)
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
K Zhang et al.
NATURE GENETICS (2001)
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
A Rivera et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Indocyanine green angiography in fundus flavimaculatus
J Schwoerer et al.
OPHTHALMOLOGICA (2000)
ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy
LL Molday et al.
NATURE GENETICS (2000)
Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration
NL Mata et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol
A Rattner et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)