Open Access. Powered by Scholars. Published by Universities.®
- Keyword
-
- Animal (2)
- Disease models (2)
- Genetic variation (2)
- ABCA4 (1)
- Aging related diseases (1)
-
- BEST1 (1)
- Best vitelliform macular dystrophy (1)
- Bestrophin-1 (1)
- Bone marrow transplantation (1)
- Canine (1)
- Canine multifocal retinopathy (1)
- Cell death (1)
- Cell survival (1)
- Comparative protein modeling (1)
- Dog model (1)
- Genetic diversity (1)
- Genetic linkage (1)
- Genetic markers (1)
- Genetic predisposition to disease (1)
- Glycosaminoglycans (1)
- Haplotype structure (1)
- Iduronidase (1)
- Lysosomal storage diseases (1)
- Madin-darby canine kidney cells (1)
- Missense mutations (1)
- Model systems for aging research (1)
- Mucopolysaccharidosis I (1)
- Normal aging (1)
- Organ specific mechanisms of aging in humans and animals (1)
- Pro-apoptosis genes (1)
Articles 1 - 6 of 6
Full-Text Articles in Diseases
Identification Of Genetic Variation And Haplotype Structure Of The Canine Abca4 Gene For Retinal Disease Association Studies, Barbara Zangerl, Sarah J. Lindauer, Gregory M. Acland, Gustavo D. Aguirre
Identification Of Genetic Variation And Haplotype Structure Of The Canine Abca4 Gene For Retinal Disease Association Studies, Barbara Zangerl, Sarah J. Lindauer, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. The disease mechanisms, and genotype–phenotype associations, nonetheless, remain elusive in many cases. As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. However, the size of the gene and lack of haplotype assignment significantly limit targeted association and/or linkage approaches. This study assessed the naturally observed …
Modeling The Structural Consequences Of Best1 Missense Mutations, Karina E. Guziewicz, Gustavo D. Aguirre, Barbara Zangerl
Modeling The Structural Consequences Of Best1 Missense Mutations, Karina E. Guziewicz, Gustavo D. Aguirre, Barbara Zangerl
Gustavo D. Aguirre, VMD, PhD
Mutations in the bestrophin-1 gene (BEST1) are an important cause of inherited retinal disorders. Hitherto, over 100 unique allelic variants have been linked to the human BEST1 (hBEST1), and associated with disease phenotypes, broadly termed as bestrophinopathies. A spontaneous animal model recapitulating BEST1-related phenotypes, canine multifocal retinopathy (cmr), is caused by mutations in the canine gene ortholog (cBEST1). We have recently characterized molecular consequences of cmr, demonstrating defective protein trafficking as a result of G161D (cmr2) mutation. To further investigate the pathological effects of BEST1 missense mutations, canine and human peptide fragments derived from the protein sequence have been studied …
Bone Marrow Transplantation For Feline Mucopolysaccharidosis I, Norman Matthew Ellinwood, Marie-Anne Colle, Margaret A. Weil, Margret L. Casal, Charles H. Vite, Staci Wiemelt, Christopher W. Hasson, Thomas M. O'Malley, Xingxuan He, Ulana Prociuk, Lucie Verot, John R. Melniczek, Anne Lannon, Gustavo D. Aguirre, Van W. Knox, Sydney M. Evans, Marie T. Vanier, Edward H. Schuchman, Steven U. Walkley, Mark E. Haskins
Bone Marrow Transplantation For Feline Mucopolysaccharidosis I, Norman Matthew Ellinwood, Marie-Anne Colle, Margaret A. Weil, Margret L. Casal, Charles H. Vite, Staci Wiemelt, Christopher W. Hasson, Thomas M. O'Malley, Xingxuan He, Ulana Prociuk, Lucie Verot, John R. Melniczek, Anne Lannon, Gustavo D. Aguirre, Van W. Knox, Sydney M. Evans, Marie T. Vanier, Edward H. Schuchman, Steven U. Walkley, Mark E. Haskins
Gustavo D. Aguirre, VMD, PhD
Severe mucopolysaccharidosis type I (MPS I) is a fatal neuropathic lysosomal storage disorder with significant skeletal involvement. Treatment involves bone marrow transplantation (BMT), and although effective, is suboptimal, due to treatment sequelae and residual disease. Improved approaches will need to be tested in animal models and compared to BMT. Herein we report on bone marrow transplantation to treat feline mucopolysaccharidosis I (MPS I). Five MPS I stably engrafted kittens, transplanted with unfractionated bone marrow (6.3 × 107–1.1 × 109 nucleated bone marrow cells per kilogram) were monitored for 13–37 months post-engraftment. The tissue total glycosaminoglycan (GAG) content was reduced to …
Development And Validation Of A Canine-Specific Profiling Array To Examine Expression Of Pro-Apoptotic And Pro-Survival Genes In Retinal Degenerative Diseases, Sem Genini, William Beltran, Gustavo D. Aguirre
Development And Validation Of A Canine-Specific Profiling Array To Examine Expression Of Pro-Apoptotic And Pro-Survival Genes In Retinal Degenerative Diseases, Sem Genini, William Beltran, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
We developed an expression profiling array to examine pro-apoptotic and pro-survival genes in dog retinal degeneration models. Gene-specific canine TaqMan assays were developed and included in a custom real-time quantitative reverse transcription-PCR (qRT-PCR) array. Of the 96 selected genes, 93 belonged to known relevant pro-apoptotic and pro-survival pathways, and/or were positive controls expressed in retina, while three were housekeeping genes. Ingenuity Pathway Analysis (IPA) showed that the selected genes belonged to expected biological functions (cell death, cell-mediated immune response, cellular development, function, and maintenance) and pathways (death receptor signaling, apoptosis, TNFR1 signaling, and induction of apoptosis by HIV1). Validation of …
Linkage Disequilibrium Mapping In Domestic Dog Breeds Narrows The Progressive Rod-Cone Degeneration Interval And Identifies Ancestral Disease-Transmitting Chromosome, Orly Goldstein, Barbara Zangerl, Sue Pearce-Kelling, Duska J. Sidjanin, James W. Kijas, Jeanette Felix, Gregory M. Acland, Gustavo D. Aguirre
Linkage Disequilibrium Mapping In Domestic Dog Breeds Narrows The Progressive Rod-Cone Degeneration Interval And Identifies Ancestral Disease-Transmitting Chromosome, Orly Goldstein, Barbara Zangerl, Sue Pearce-Kelling, Duska J. Sidjanin, James W. Kijas, Jeanette Felix, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Canine progressive rod–cone degeneration (prcd) is a retinal disease previously mapped to a broad, gene-rich centromeric region of canine chromosome 9. As allelic disorders are present in multiple breeds, we used linkage disequilibrium (LD) to narrow the ∼6.4-Mb interval candidate region. Multiple dog breeds, each representing genetically isolated populations, were typed for SNPs and other polymorphisms identified from BACs. The candidate region was initially localized to a 1.5-Mb zero recombination interval between growth factor receptor-bound protein 2 (GRB2) and SEC14-like 1 (SEC14L). A fine-scale haplotype of the region was developed, which reduced the LD interval to 106 kb and identified …
Exploring Human/Animal Intersections: Converging Lines Of Evidence In Comparative Models Of Aging, John Q. Trojanowski, Joan C. Hendricks, Kathryn Jedrziewski, F. Brad Johnson, Kathryn E. Michel, Rebecka S. Hess, Michael P. Cancro, Margaret M. Sleeper, Robert Pignolo, Karen L. Teff, Gustavo D. Aguirre, Virginia Man-Yee Lee, Dennis F. Lawler, Allan I. Pack, Peter F. Davies
Exploring Human/Animal Intersections: Converging Lines Of Evidence In Comparative Models Of Aging, John Q. Trojanowski, Joan C. Hendricks, Kathryn Jedrziewski, F. Brad Johnson, Kathryn E. Michel, Rebecka S. Hess, Michael P. Cancro, Margaret M. Sleeper, Robert Pignolo, Karen L. Teff, Gustavo D. Aguirre, Virginia Man-Yee Lee, Dennis F. Lawler, Allan I. Pack, Peter F. Davies
Gustavo D. Aguirre, VMD, PhD
At a symposium convened on March 8, 2007 by the Institute on Aging at the University of Pennsylvania, researchers from the University’s Schools of Medicine and Veterinary Medicine explored the convergence of aging research emerging from the two schools. Studies in human patients, animal models, and companion animals have revealed different but complementary aspects of the aging process, ranging from fundamental biologic aspects of aging to the treatment of age-related diseases, both experimentally and in clinical practice. Participants concluded that neither animal nor human research alone will provide answers to most questions about the aging process. Instead, an optimal translational …