Research Topics
| Debra ThompsonSummaryAffiliation: University of Michigan Country: USA Publications
Research Grants
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Detail Information
Publications
Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseasesDebra A Thompson
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI 48105, USA
Prog Retin Eye Res 22:683-703. 2003....- Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycleDebra A Thompson
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor 48105, USA, and Unidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocio, Seville, Spain
Hum Mol Genet 14:3865-75. 2005..Haplotype analysis in the family in which LCA3 was mapped excluded RDH12 as the LCA3 gene and thus suggests the presence of a novel arRD gene in this region... - Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophyD A Thompson
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA
Nat Genet 28:123-4. 2001..Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases... - Genetics and phenotypes of RPE65 mutations in inherited retinal degenerationD A Thompson
Departments of Ophthalmology and Visual Sciences and Biological Chemistry, University of Michigan Medical School, Ann Arbor, USA
Invest Ophthalmol Vis Sci 41:4293-9. 2000..To characterize the spectrum of RPE65 mutations present in 453 patients with retinal dystrophy with an interest in understanding the range of functional deficits attributable to sequence variants in this gene... - Localization of receptors for luteinizing hormone/chorionic gonadotropin in neural retinaD A Thompson
Department of Ophthalmology, University of Michigan Medical School, Ann Arbor 48105, USA
Life Sci 63:1057-64. 1998.... - Characterization of the human type 2 neuropeptide Y receptor gene (NPY2R) and localization to the chromosome 4q region containing the type 1 neuropeptide Y receptor geneD A Ammar
Department of Ophthalmology, The University of Michigan Medical School, Ann Arbor, Michigan 48105, USA
Genomics 38:392-8. 1996..The Y2 receptor gene maps to human chromosome 4q31, the same region containing the Y1 receptor locus, suggesting that these subtypes may have arisen by gene duplication despite their structural differences... - Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epitheliumA Nicoletti
Department of Biological Chemistry, University of Michigan, Ann Arbor 48105, USA
Hum Mol Genet 4:641-9. 1995.... 
Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapyP A Sieving
Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan Medical School, 1000 Wall Street, Ann Arbor, MI 48105, USA
Proc Natl Acad Sci U S A 98:1835-40. 2001..Isotretinoin was also found to protect rat photoreceptors from light-induced damage, suggesting that strategies of altering retinoid cycling may have therapeutic implications for some forms of retinal and macular degeneration...- Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific proteinA Nicoletti
Department of Ophthalmology, University of Michigan Medical School, Ann Arbor 48105 0714, USA
Invest Ophthalmol Vis Sci 39:637-44. 1998.... - A facile method for immunofluorescence microscopy of highly autofluorescent human retinal sections using nanoparticles with large Stokes shiftsHoward R Petty
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, United States
J Neurosci Methods 191:222-6. 2010..Of particular note is the ability to detect antigens within the brightly autofluorescent RPE cell layer... - XIAP therapy increases survival of transplanted rod precursors in a degenerating host retinaJingyu Yao
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA
Invest Ophthalmol Vis Sci 52:1567-72. 2011..To assess the survival of rod precursor cells transplanted into the Rd9 mouse, a model of X-linked retinal degeneration, and the effect of antiapoptotic therapy with X-linked inhibitor of apoptosis (XIAP) on preventing cell loss... - Contribution of melanocortin receptor exoloops to Agouti-related protein bindingY K Yang
Departments of General Surgery, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
J Biol Chem 274:14100-6. 1999..These data indicate that exoloops 2 and 3 of the melanocortin receptors are important for AGRP binding... - Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectivelyDebra A Thompson
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI, USA
Am J Hum Genet 70:224-9. 2002.... - Clinical course and visual function in a family with mutations in the RPE65 geneJoost Felius
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA
Arch Ophthalmol 120:55-61. 2002..To evaluate the phenotype of affected and carrier members of a family with mutations in RPE65 (a retinal pigment epithelium gene)... - MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cellsChristina L McHenry
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA
Invest Ophthalmol Vis Sci 45:1456-63. 2004..This study reports the identification and functional analysis of novel MERTK mutations to provide information regarding whether they are causative of severe rod-cone degeneration in a young patient... - Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophyAndreas R Janecke
Institut fur Medizinische Biologie und Humangenetik, Medizinische Universitat Innsbruck, Innsbruck, Austria
Nat Genet 36:850-4. 2004..Our studies show that RDH12 is associated with retinal dystrophy and encodes an enzyme with a unique, nonredundant role in the photoreceptor cells... - Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA)Ji Jing Pang
Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, USA
Mol Vis 11:152-62. 2005..To report the phenotype and characterization of a new, naturally occurring mouse model of hereditary retinal degeneration (rd12)... - RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expressionSamuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 48:332-8. 2007..The relationship of retinal organization and visual function in patients with RDH12 mutations was determined and comparisons made with the disease from mutations in another visual cycle gene, RPE65... - Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degenerationJames S Friedman
Department of Ophthalmology, W K Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA
Am J Hum Genet 79:1059-70. 2006..We suggest that the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing... - Genetic defects in vitamin A metabolism of the retinal pigment epitheliumDebra A Thompson
Departments of Ophthalmology and Visual Sciences, and Biological Chemistry, University of Michigan Medical School, Ann Arbor, Mich, USA
Dev Ophthalmol 37:141-54. 2003..On the basis of these advances, it is hoped that patients with defects in RPE vitamin A metabolism will be among the first successfully treated by targeted therapies likely to become available in the near future... 
Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segmentsKecia L Feathers
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA
Invest Ophthalmol Vis Sci 49:1126-35. 2008....- The phenotype of early-onset retinal degeneration in persons with RDH12 mutationsAndreas Schuster
Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Schleichstrasse 12 16, D 72076 Tubingen, Germany
Invest Ophthalmol Vis Sci 48:1824-31. 2007..To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells... - RPE65 surface epitopes, protein interactions, and expression in rod- and cone-dominant speciesNahid Hemati
Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI 48105, USA
Mol Vis 11:1151-65. 2005..The finding that RPE65 immunoreactivity is present in the RPE and not retina of both rod- and cone-dominant species does not support a proposed direct role for RPE65 in cone cell function... - Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the proteinRajesh Ambasudhan
Kellogg Eye Center, Ophthalmology, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
Genomics 83:615-25. 2004..Our observations suggest that the consequences of defective protein trafficking could underlie the molecular mechanism associated with degeneration of the macula in the patients with adMD/STGD3...
Research Grants
- RPE65 IN RETINAL METABOLISM AND DEGENERATIONDebra Thompson; Fiscal Year: 2005..The long-term goals of this project are to elucidate the mechanisms by which RPE65 defects contribute to retinal degeneration, and to lay the groundwork for the development of therapeutic approaches to the disease. ..