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Apoptosis in Inherited Retinal Degenerations

  • Chapter
Apoptosis

Part of the book series: Pezcoller Foundation Symposia ((PFSO,volume 5))

Abstract

The molecular biological descriptions of genetic defects in several forms of inherited blindness in humans, mice, and dogs leave us bewildered about the causes of photoreceptor death. Mutations of many different proteins interfere with normal development of photoreceptors or initiate a process that leads to premature photoreceptor death for obscure reasons. These mutations include the rhodopsin gene at many different sites (reviewed by Berson1), the β subunit of cyclic-GMP phosphodiesterase in rd mice and red1 Irish setters2,3, the rds I peripher in gene in mice and man4,5,6,7 and the A component of geranylgeranyl transferase in human choroideremia8,9. Two features are common to some of these retinal degenerations: the loss of the polarized distribution of rhodopsin and the absence of an inflammatory response to the dying cells.

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Authors and Affiliations

  1. Department of Pathology, University of Texas Health Science Center, San Antonio, Texas, 78284, USA

    David S. Papermaster & Izhak Nir

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  1. David S. Papermaster
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  2. Izhak Nir
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Editor information

Editors and Affiliations

  1. Roswell Park Cancer Institute, Buffalo, New York, USA

    Enrico Mihich

  2. Stanford University, Stanford, California, USA

    Robert T. Schimke

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© 1994 Springer Science+Business Media New York

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Papermaster, D.S., Nir, I. (1994). Apoptosis in Inherited Retinal Degenerations. In: Mihich, E., Schimke, R.T. (eds) Apoptosis. Pezcoller Foundation Symposia, vol 5. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-9217-1_2

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  • DOI: https://doi.org/10.1007/978-1-4757-9217-1_2

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4757-9219-5

  • Online ISBN: 978-1-4757-9217-1

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