Debra Thompson

Summary

Affiliation: University of Michigan
Country: USA

Publications

  1. pmc MERTK interactions with SH2-domain proteins in the retinal pigment epithelium
    Shameka J Shelby
    Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA
    PLoS ONE 8:e53964. 2013
  2. ncbi request reprint 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 gene
    D A Ammar
    Department of Ophthalmology, The University of Michigan Medical School, Ann Arbor, Michigan 48105, USA
    Genomics 38:392-8. 1996
  3. ncbi request reprint Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
    Debra 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
  4. ncbi request reprint Localization of receptors for luteinizing hormone/chorionic gonadotropin in neural retina
    D A Thompson
    Department of Ophthalmology, University of Michigan Medical School, Ann Arbor 48105, USA
    Life Sci 63:1057-64. 1998
  5. ncbi request reprint Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
    D 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
  6. ncbi request reprint Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases
    Debra 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
  7. ncbi request reprint Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
    D A Thompson
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA
    Nat Genet 28:123-4. 2001
  8. ncbi request reprint Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium
    A Nicoletti
    Department of Biological Chemistry, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 4:641-9. 1995
  9. ncbi request reprint Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein
    A Nicoletti
    Department of Ophthalmology, University of Michigan Medical School, Ann Arbor 48105 0714, USA
    Invest Ophthalmol Vis Sci 39:637-44. 1998
  10. pmc 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 therapy
    P 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

Research Grants

  1. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2000
  2. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2001
  3. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2002
  4. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2002
  5. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2003
  6. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2004
  7. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2005

Collaborators

Detail Information

Publications25

  1. pmc MERTK interactions with SH2-domain proteins in the retinal pigment epithelium
    Shameka J Shelby
    Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA
    PLoS ONE 8:e53964. 2013
    ..Identification of the SH2-domain signaling partners of MERTK is an important step toward further defining the mechanism of RPE phagocytosis that is central to the function and survival of the retina...
  2. ncbi request reprint 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 gene
    D 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...
  3. ncbi request reprint Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
    Debra 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...
  4. ncbi request reprint Localization of receptors for luteinizing hormone/chorionic gonadotropin in neural retina
    D A Thompson
    Department of Ophthalmology, University of Michigan Medical School, Ann Arbor 48105, USA
    Life Sci 63:1057-64. 1998
    ....
  5. ncbi request reprint Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
    D 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...
  6. ncbi request reprint Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases
    Debra 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
    ....
  7. ncbi request reprint Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
    D 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...
  8. ncbi request reprint Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium
    A Nicoletti
    Department of Biological Chemistry, University of Michigan, Ann Arbor 48105, USA
    Hum Mol Genet 4:641-9. 1995
    ....
  9. ncbi request reprint Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein
    A Nicoletti
    Department of Ophthalmology, University of Michigan Medical School, Ann Arbor 48105 0714, USA
    Invest Ophthalmol Vis Sci 39:637-44. 1998
    ....
  10. pmc 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 therapy
    P 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...
  11. pmc XIAP therapy increases survival of transplanted rod precursors in a degenerating host retina
    Jingyu 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...
  12. pmc A facile method for immunofluorescence microscopy of highly autofluorescent human retinal sections using nanoparticles with large Stokes shifts
    Howard 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...
  13. ncbi request reprint Contribution of melanocortin receptor exoloops to Agouti-related protein binding
    Y 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...
  14. ncbi request reprint RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression
    Samuel 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...
  15. pmc Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration
    James 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...
  16. pmc Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively
    Debra 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
    ....
  17. ncbi request reprint 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)...
  18. ncbi request reprint Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
    Andreas 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...
  19. ncbi request reprint MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells
    Christina 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...
  20. ncbi request reprint Clinical course and visual function in a family with mutations in the RPE65 gene
    Joost 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)...
  21. ncbi request reprint RPE65 surface epitopes, protein interactions, and expression in rod- and cone-dominant species
    Nahid Hemati
    Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, MI 48105, USA
    Mol Vis 11:1151-65. 2005
    ..Our purpose was to identify RPE65 surface epitopes, to assess protein interactions, and to evaluate RPE65 expression in eyes from rod- and cone-dominant species using a monoclonal antibody approach...
  22. ncbi request reprint The phenotype of early-onset retinal degeneration in persons with RDH12 mutations
    Andreas 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...
  23. doi request reprint Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments
    Kecia 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
    ....
  24. ncbi request reprint Genetic defects in vitamin A metabolism of the retinal pigment epithelium
    Debra 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...
  25. ncbi request reprint Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein
    Rajesh 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 Grants7

  1. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2000
    ..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. ..
  2. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2001
    ..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. ..
  3. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2002
    ..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. ..
  4. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2002
    ..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. ..
  5. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2003
    ..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. ..
  6. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra Thompson; Fiscal Year: 2004
    ..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. ..
  7. RPE65 IN RETINAL METABOLISM AND DEGENERATION
    Debra 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. ..