A5001456988- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Photoreceptor and optogenetics research
- Retinoids in leukemia and cellular processes
- Autophagy in Disease and Therapy
- Receptor Mechanisms and Signaling
- Cellular transport and secretion
- Retinopathy of Prematurity Studies
- Phagocytosis and Immune Regulation
- Neuropeptides and Animal Physiology
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Nuclear Structure and Function
- Retinal and Optic Conditions
- Retinal Imaging and Analysis
- Antioxidant Activity and Oxidative Stress
- Mitochondrial Function and Pathology
- Virus-based gene therapy research
- Connexins and lens biology
- Ocular Disorders and Treatments
- Photosynthetic Processes and Mechanisms
- Neuroscience and Neuropharmacology Research
- Biochemical and Molecular Research
- Glaucoma and retinal disorders
- Metabolism and Genetic Disorders
University of Michigan
2015-2024
Michigan United
2012-2021
W.K. Kellogg Foundation
1995-2021
Michigan Medicine
2018
Visual Sciences (United States)
2016-2017
Northwestern University
2016
Ann Arbor Center for Independent Living
2013-2015
Medical College of Wisconsin
2014
VA Pittsburgh Healthcare System
2005
Vidant Medical Center
2003
Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that severely impairs sight children. Gene therapy can result modest improvements night vision, but knowledge of its efficacy humans is limited.
Autophagy regulates cellular homeostasis and response to environmental stress. Within the retinal pigment epithelium (RPE) of eye, level autophagy can change with both age disease. The purpose this study is determine relationship between reduced age-related degeneration RPE. gene encoding RB1CC1/FIP200 (RB1-inducible coiled-coil 1), a protein essential for induction autophagy, was selectively knocked out in RPE by crossing Best1-Cre mice which Rb1cc1 flanked Lox-P sites (Rb1cc1flox/flox). Ex...
Caloric restriction mimetic drugs have geroprotective effects that delay or reduce risks for a variety of age-associated systemic diseases, suggesting such might also the potential to blinding ophthalmologic conditions which age is major risk factor.To determine whether caloric drug metformin hydrochloride associated with reduced open-angle glaucoma (OAG) in persons diabetes mellitus.Retrospective cohort study patients aged 40 years older mellitus and no preexisting record OAG large US...
Isotretinoin (13 -cis retinoic acid) is frequently prescribed for severe acne [Peck, G. L., Olsen, T. G., Yoder, F. W., Strauss, J. S., Downing, D. T., Pandya, M., Butkus, & Arnaud-Battandier, (1979) N. Engl. Med. 300, 329–333] but can impair night vision [Fraunfelder, LaBraico, M. Meyer, S. (1985) Am. Ophthalmol. 100, 534–537] shortly after the beginning of therapy [Shulman, R. (1989) Public Health 79, 1565–1568]. As rod photoreceptors are responsible vision, we administered...
When solubilized in laurylmaltoside, cytochrome oxidases from beef heart and rat liver mitochondria exist as monodisperse populations that are stable, highly active, have apparent molecular weights of 300,000 to 350,000, measured by gel filtration.To determine whether these monomeric (2 heme A, 2 Cu) or dimeric forms the enzyme, we performed radiation inactivation sedimentation equilibrium analyses.From experiments under two different sets conditions, obtained estimates for functiond weight...
Mutations in the genes necessary for structure and function of vertebrate photoreceptor cells are associated with multiple forms inherited retinal degeneration. gene encoding RHO (rhodopsin) a common cause autosomal dominant retinitis pigmentosa (adRP), Pro23His variant resulting misfolded protein that activates endoplasmic reticulum stress unfolded response. Stimulating macroautophagy/autophagy has been proposed as strategy clearing reducing death. We found retinas from mice heterozygous...
The P23H variant of rhodopsin results in misfolding the protein, and is a common cause blinding disease autosomal dominant retinitis pigmentosa (adRP). We have recently demonstrated that degeneration photoreceptor cells retinas mice due to endoplasmic reticulum stress (ERS)-induced activation autophagy leads secondary proteasome insufficiency cell death pathways. propose this increased level flux relative activity, which we term A:P ratio, represents marker altered homeostasis, therapies...
The retinal pigment epithelium (RPE) of the eye expresses an abundant 61 kDa protein (RPE65), that is developmentally regulated and tissue-specific. In our eftorts toward understanding specialized functions development APE, origins inherited degenerations, we have characterized human gene encoding protein. This first structural characterization a transcribed specifically in APE. maps to chromosome 1p3l. sequence transcript spans over 20 kb, interrupted by 13 introns. A putative transcription...
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTLipid and subunit III depleted cytochrome c oxidase purified by horse affinity chromatography in lauryl maltosideD. A. Thompson S. Ferguson-MillerCite this: Biochemistry 1983, 22, 13, 3178–3187Publication Date (Print):June 21, 1983Publication History Published online1 May 2002Published inissue 21 June 1983https://pubs.acs.org/doi/10.1021/bi00282a022https://doi.org/10.1021/bi00282a022research-articleACS PublicationsRequest reuse permissionsArticle...
Retinoid dehydrogenases/reductases catalyze key oxidation-reduction reactions in the visual cycle that converts vitamin A to 11-cis retinal, chromophore of rod and cone photoreceptors. It has recently been shown mutations RDH12, encoding a retinol dehydrogenase, result severe early-onset autosomal recessive retinal dystrophy (arRD). In cohort 1011 individuals diagnosed with arRD, we have now identified 20 different disease-associated RDH12 mutations, which 16 are novel, total 22 (2.2%)....
Xenopus oocytes express a gene encoding bovine rhodopsin as well its SP6 RNA polymerase-derived transcripts and total retinal mRNA. The opsin produced is in unglycosylated (30 kDa) two glycosylated (35 kDa 41 forms. Incubation of the cells expressing above proteins with 11-cis-retinal generates rhodopsin, which was purified by immunoaffinity chromatography. protein shows expected UV/visible absorption spectrum characteristic light-dependent activation rod outer segment GTP binding protein....