Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Progress in lipid research

• Publication date

  2010-10-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.plipres.2010.07.002PMID 20633576PMCID PMC2946192
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Age related macular degeneration

  2010cited by this paper
• Novel Lipofuscin Bisretinoids Prominent in Human Retina and in a Model of Recessive Stargardt Disease*

  2009cited by this paper
• Complement activation by bisretinoid constituents of RPE lipofuscin.

  2009cited by this paper
• DHA does not protect ELOVL4 transgenic mice from retinal degeneration

  2009cited by this paper
• Polyunsaturated very-long-chain C28–C36 fatty acids and retinal physiology

  2009cited by this paper
• Localization, Purification, and Functional Reconstitution of the P4-ATPase Atp8a2, a Phosphatidylserine Flippase in Photoreceptor Disc Membranes*

  2009cited by this paper
• Structure and mechanism of ATP-binding cassette transporters

  2009cited by this paper
• Formation of Two Intramolecular Disulfide Bonds Is Necessary for ApoA-I-dependent Cholesterol Efflux Mediated by ABCA1*

  2009influential reference
• The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.

  2009cited by this paper
• Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.

  2009cited by this paper
• Role of the C Terminus of the Photoreceptor ABCA4 Transporter in Protein Folding, Function, and Retinal Degenerative Diseases*

  2009influential reference
• Elovl4 5-bp deletion knock-in mouse model for Stargardt-like macular degeneration demonstrates accumulation of ELOVL4 and lipofuscin.

  2009cited by this paper
• The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene.

  2009cited by this paper
• The ATP-binding cassette family: a structural perspective

  2009cited by this paper
• A Ligand Channel through the G Protein Coupled Receptor Opsin

  2009cited by this paper
• ABCA4 disease progression and a proposed strategy for gene therapy.

  2009cited by this paper
• Natural History of Phenotypic Changes in Stargardt Macular Dystrophy

  2009cited by this paper
• Novel lipogenic enzyme ELOVL7 is involved in prostate cancer growth through saturated long-chain fatty acid metabolism.

  2009cited by this paper
• Genetics of age-related macular degeneration

  2009cited by this paper
• Mammalian fatty acid elongases.

  2009cited by this paper
• Stargardt's Disease and the ABCR Gene

  2008cited by this paper
• Leber congenital amaurosis: genes, proteins and disease mechanisms.

  2008cited by this paper
• Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy

  2008cited by this paper
• Crystal structure of the ligand-free G-protein-coupled receptor opsin

  2008cited by this paper
• Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids

  2008influential reference
• Proteomics of Photoreceptor Outer Segments Identifies a Subset of SNARE and Rab Proteins Implicated in Membrane Vesicle Trafficking and Fusion *S

  2008cited by this paper
• Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation.

  2008cited by this paper
• Age-related macular degeneration.

  2008cited by this paper
• How vision begins: An odyssey

  2008cited by this paper
• Recovery of rod photoresponses in ABCR-deficient mice.

  2008cited by this paper
• The Age Lipid A2E and Mitochondrial Dysfunction Synergistically Impair Phagocytosis by Retinal Pigment Epithelial Cells*

  2008cited by this paper
• Retinopathy in Mice Induced by Disrupted All-trans-retinal Clearance*

  2008cited by this paper
• A2E, a pigment of RPE lipofuscin, is generated from the precursor, A2PE by a lysosomal enzyme activity.

  2008influential reference
• Hereditary retinal disease

  2008cited by this paper
• Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

  2008cited by this paper
• Cone rod dystrophies

  2007cited by this paper
• Changes in Lipids Containing Long- and Very Long-Chain Polyunsaturated Fatty Acids in Cryptorchid Rat Testes1

  2007cited by this paper
• Essential role of Elovl4 in very long chain fatty acid synthesis, skin permeability barrier function, and neonatal survival

  2007cited by this paper
• ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerols⃞ Published, JLR Papers in Press, December 1, 2006.

  2007cited by this paper
• ABCA3 as a Lipid Transporter in Pulmonary Surfactant Biogenesis*

  2007cited by this paper
• An update on the genetics of age-related macular degeneration

  2007cited by this paper
• Bringing the genetics of macular degeneration into focus

  2007cited by this paper
• Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4

  2007cited by this paper
• The lipofuscin fluorophore A2E perturbs cholesterol metabolism in retinal pigment epithelial cells

  2007cited by this paper
• Ceramides and Sphingomyelins with High Proportions of Very Long-chain Polyunsaturated Fatty acids in Mammalian Germ Cells*

  2007cited by this paper
• Structure and function of ABC transporters.

  2007cited by this paper
• Very Long-chain Polyunsaturated Fatty Acids Are the Major Acyl Groups of Sphingomyelins and Ceramides in the Head of Mammalian Spermatozoa*

  2007cited by this paper
• Review of Genetics in Age Related Macular Degeneration

  2007cited by this paper
• ATP-binding cassette transporter ABCA4: Molecular properties and role in vision and macular degeneration

  2007cited by this paper
• A Stargardt disease‐3 mutation in the mouse Elovl4 gene causes retinal deficiency of C32–C36 acyl phosphatidylcholines

  2007cited by this paper
• Depletion of ceramides with very long chain fatty acids causes defective skin permeability barrier function, and neonatal lethality in ELOVL4 deficient mice

  2007cited by this paper
• The all-trans-retinal dimer series of lipofuscin pigments in retinal pigment epithelial cells in a recessive Stargardt disease model

  2007cited by this paper
• Epidermal sphingolipids: Metabolism, function, and roles in skin disorders

  2006cited by this paper
• De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy

  2006cited by this paper
• [Age-related macular degeneration].

  2006cited by this paper
• Retinitis pigmentosa.

  2006cited by this paper
• The A‐loop, a novel conserved aromatic acid subdomain upstream of the Walker A motif in ABC transporters, is critical for ATP binding

  2006cited by this paper
• Macular degeneration: recent advances and therapeutic opportunities

  2006cited by this paper
• A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration

  2006cited by this paper
• Interaction of the nucleotide binding domains and regulation of the ATPase activity of the human retina specific ABC transporter, ABCR.

  2006cited by this paper
• Fatty acid elongases in mammals: their regulation and roles in metabolism.

  2006influential reference
• ABC A-subfamily transporters: structure, function and disease.

  2006cited by this paper
• The conserved tyrosine residues 401 and 1044 in ATP sites of human P-glycoprotein are critical for ATP binding and hydrolysis: evidence for a conserved subdomain, the A-loop in the ATP-binding cassette.

  2006cited by this paper
• Haploinsufficiency is not the key mechanism of pathogenesis in a heterozygous Elovl4 knockout mouse model of STGD3 disease.

  2006cited by this paper
• Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants.

  2005cited by this paper
• A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.

  2005cited by this paper
• H662 is the linchpin of ATP hydrolysis in the nucleotide‐binding domain of the ABC transporter HlyB

  2005cited by this paper
• Complement Factor H Polymorphism in Age-Related Macular Degeneration

  2005cited by this paper
• Retinal‐specific ATP‐binding cassette transporter (ABCR/ABCA4) is expressed at the choroid plexus in rat brain

  2005cited by this paper
• New Insights into the Drug Binding, Transport and Lipid Flippase Activities of the P-Glycoprotein Multidrug Transporter

  2005cited by this paper
• Complement Factor H Polymorphism and Age-Related Macular Degeneration

  2005cited by this paper
• RPE lipofuscin and its role in retinal pathobiology.

  2005cited by this paper
• ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

  2005cited by this paper
• Evolution of the ATP-binding cassette (ABC) transporter superfamily in vertebrates.

  2005cited by this paper
• Dominant Negative Mechanism Underlies Autosomal Dominant Stargardt-like Macular Dystrophy Linked to Mutations in ELOVL4*

  2005cited by this paper
• Distinct spatio‐temporal expression of ABCA and ABCG transporters in the developing and adult mouse brain

  2005cited by this paper
• Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes.

  2005cited by this paper
• Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.

  2005cited by this paper
• Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration

  2005cited by this paper
• Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.

  2005cited by this paper
• ABCA3 gene mutations in newborns with fatal surfactant deficiency.

  2004cited by this paper
• Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein.

  2004cited by this paper
• Evolution of ABCA4 Proteins in Vertebrates

  2004cited by this paper
• Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degeneration.

  2004cited by this paper
• N-Retinylidene-phosphatidylethanolamine Is the Preferred Retinoid Substrate for the Photoreceptor-specific ABC Transporter ABCA4 (ABCR)*

  2004cited by this paper
• The ATP switch model for ABC transporters

  2004cited by this paper
• A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.

  2004influential reference
• Dark adaptation and the retinoid cycle of vision.

  2004cited by this paper
• Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression.

  2004cited by this paper
• Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology.

  2003cited by this paper
• Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina.

  2003cited by this paper
• Functional Interaction between the Two Halves of the Photoreceptor-specific ATP Binding Cassette Protein ABCR (ABCA4)

  2003cited by this paper
• Rad50/SMC proteins and ABC transporters: unifying concepts from high-resolution structures.

  2003cited by this paper
• A2E, a fluorophore of RPE lipofuscin: can it cause RPE degeneration?

  2003cited by this paper
• Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations.

  2003cited by this paper
• Genetics of macular dystrophies and implications for age-related macular degeneration.

  2003cited by this paper
• Real-time reverse transcription-PCR expression profiling of the complete human ATP-binding cassette transporter superfamily in various tissues.

  2003cited by this paper
• ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.

  2003cited by this paper
• The genetics of age-related macular degeneration.

  2003cited by this paper
• Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2.

  2003cited by this paper

• Advances and challenges of targeted protein degradation in ophthalmology: Future directions and therapeutic potential

  2025cites this paper
• Elovl4b knockout zebrafish as a model for ocular very-long-chain PUFA deficiency

  2024cites this paper
• Molecular detection of lacrimal apparatus and ocular surface - related ABC transporter genes.

  2024cites this paper
• Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication

  2024cites this paper
• Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants

  2024cites this paper
• Novel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance

  2024cites this paper
• Cell therapy for retinal degenerative disorders: a systematic review and three-level meta-analysis

  2024cites this paper
• Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes

  2023cites this paper
• Split AAV8 Mediated ABCA4 Expression for Gene Therapy of Mouse Stargardt Disease (STGD1)

  2023cites this paper
• Cell-autonomous lipid-handling defects in Stargardt iPSC-derived retinal pigment epithelium cells

  2022cites this paper
• The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems—A Systematic Review

  2022cites this paper
• Induction of ferroptosis by HO-1 contributes to retinal degeneration in mice with defective clearance of all-trans-retinal.

  2022cites this paper
• Three-year safety results of SAR422459 (EIAV-ABCA4) gene therapy in patients with ABCA4-associated Stargardt disease: An open-label dose-escalation phase I/IIa clinical trial, cohorts 1-5.

  2022cites this paper
• An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

  2021cites this paper
• Regulatory Mechanisms of Retinal Photoreceptors Development at Single Cell Resolution

  2021cites this paper
• Nano-scale resolution of native retinal rod disk membranes reveals differences in lipid composition

  2021cites this paper
• Dynamic lipid turnover in photoreceptors and retinal pigment epithelium throughout life.

  2021cites this paper
• Therapy Approaches for Stargardt Disease

  2021cites this paper
• Age-related macular degeneration masquerades: from the obvious to the obscure.

  2020cites this paper
• (Gene therapy: Novel therapeutic approach for treating ocular disorders)

  2020cites this paper
• 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 d

  2020cites this paper
• Gene-terapia: Ikuspegi terapeutiko berria begietako gaitzen tratamenduan

  2020cites this paper
• ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

  2019cites this paper
• Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease

  2019cites this paper
• Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations

  2019cites this paper
• The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease.

  2019cites this paper
• Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease

  2018cites this paper
• Nonviral Delivery Systems for Gene Therapy for Retina and Posterior Segment Disease

  2018cites this paper
• Role of the Glycogen Synthase Kinase 3 for the Retinal Development and Homeostasis

  2018cites this paper
• STARGARDT’S DISEASE AND LATENT AUTOIMMUNE DIABETES IN ADULT (LADA): AN UNUSUAL ASSOCIATION AND CLINICAL IMPLICATIONS

  2018cites this paper
• Dual AAV Vectors for Stargardt Disease.

  2018cites this paper
• 6 Degeneration and Regeneration in the Vertebrate Retina

  2017cites this paper
• STARGARDT DISEASE: Beyond Flecks and Atrophy

  2017cites this paper
• Role of Lipids in Retinal Vascular and Macular Disorders

  2017cites this paper
• Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy

  2017cites this paper
• Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease.

  2017cites this paper
• Metodologies d'alt rendiment per a la identificació de noves mutacions i gens causants de distròfies de retina: estudi funcional de nous candidats

  2017cites this paper
• Utilisation du séquençage à haut débit dans l’identification des gènes prédisposant à l’épilepsie et aux syndromes neurocutanés

  2017cites this paper
• Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

  2016cites this paper
• Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families

  2016cites this paper
• Role of Omega-3 Fatty Acids for Eye Health

  2016cites this paper
• The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

  2015cites this paper
• Gene Therapy of ABCA4-Associated Diseases.

  2015influential citation
• Fatty acid transport proteins in disease: New insights from invertebrate models.

  2015cites this paper
• STRA6: role in cellular retinol uptake and efflux.

  2015cites this paper
• Photoreceptors at a glance

  2015cites this paper
• Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

  2015cites this paper
• Improved dual AAV vectors with reduced expression of truncated proteins are safe and effective in the retina of a mouse model of Stargardt disease

  2015cites this paper
• Gene Therapy of ABCA 4-Associated Diseases

  2015influential citation
• Gene Therapy for Blinding Pediatric Eye Disorders.

  2015cites this paper
• Endoplasmic reticulum stress and the unfolded protein responses in retinal degeneration.

  2014cites this paper
• Energy Metabolism in the Vertebrate Retina

  2014cites this paper
• Long-term retinal cone survival and delayed alteration of the cone mosaic in a transgenic mouse model of stargardt-like dystrophy (STGD3).

  2014cites this paper
• Cellular reprogramming strategies for degenerative disorders involving the retinal pigment epithelium

  2014cites this paper
• Photoreceptor Degeneration: Molecular Mechanisms of Photoreceptor Degeneration

  2014cites this paper
• Expanding AAV cargo capacity for gene therapy of Stargardt disease

  2014influential citation
• Spatial organization of lipids in the human retina and optic nerve by MALDI imaging mass spectrometry[S]

  2014cites this paper
• Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

  2014cites this paper
• Comprehensive analysis of Stargardt macular dystrophy patients reveals new genotype-phenotype correlations and unexpected diagnostic revisions

  2014cites this paper
• Chemistry of the Retinoid (Visual) Cycle

  2013cites this paper
• Mammalian P4-ATPases and ABC transporters and their role in phospholipid transport.

  2013cites this paper
• Chapter 42 – Macular Dystrophies

  2013cites this paper
• Effective delivery of large genes to the retina by dual AAV vectors

  2013cites this paper
• Stargardt disease caused by a rare combination of double homozygous mutations.

  2013influential citation
• Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration

  2013cites this paper
• Glycerolipid Structure, Function, and Synthesis in Eukaryotes

  2013cites this paper
• Photoreceptor Proteins Initiate Microglial Activation via Toll-like Receptor 4 in Retinal Degeneration Mediated by All-trans-retinal*

  2013cites this paper
• VI-2 : APPORT DE L’ÉLECTROPHYSIOLOGIE CHEZ L’ADULTE : EXEMPLES

  2013cites this paper
• Retinal pigment epithelial detachment in ABCA4-associated Stargardt's disease.

  2013cites this paper
• Retinal cone and rod photoreceptor cells exhibit differential susceptibility to light‐induced damage

  2012cites this paper
• Chapter 38 – Visual Transduction

  2012cites this paper
• Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.

  2012cites this paper
• Microperimetría en rehabilitación visual de pacientes con defectos de campo central

  2012cites this paper
• Beteiligung von Ionenkanälen an der Regulation der Phagozytose des Retinalen Pigmentepithels

  2012cites this paper
• Expression of the 49 human ATP binding cassette (ABC) genes in pluripotent embryonic stem cells and in early- and late-stage multipotent mesenchymal stem cells

  2012cites this paper
• Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

  2011cites this paper
• Role of membrane integrity on G protein-coupled receptors: Rhodopsin stability and function.

  2011cites this paper
• Degeneration and Regeneration in the Vertebrate Retina

  2011cites this paper
• Biosynthesis of long-chain polyunsaturated fatty acids in marine fish: Characterization of an Elovl4-like elongase from cobia Rachycentron canadum and activation of the pathway during early life stages

  2011cites this paper
• Primary amines protect against retinal degeneration in mouse models of retinopathies

  2011cites this paper
• Lipid transport by mammalian ABC proteins.

  2011cites this paper
• The lipid translocase, ABCA4: seeing is believing

  2011cites this paper
• I. PERSONAL DATA

  2010cites this paper