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Vacuolar ATPases and Their Role in Vision

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Retinal Degenerative Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 801))

Abstract

Vacuolar ATPases (v-ATPases) hydrolyze adenosine triphospate (ATP) to pump protons across cell membranes. Mutations in v-ATPase subunits are implicated in three human disorders: distal renal tubular acidosis, osteopetrosis, and cutis laxa type II. In the eye, the role of v-ATPases is only emerging. Mutations in v-ATPase subunits are not linked to human blindness, but altered proton pump function may underlie ocular pathologies. For example, inhibition of v-ATPase by A2E may accentuate age-related macular degeneration (AMD). In animal models, v-ATPase mutations perturb the retinal pigment epithelium (RPE) and photoreceptor outer segment (OS) phagocytosis, an event linked to retinal degeneration. As the RPE plays essential roles in eye development and vision, the study of v-ATPase-induced RPE dysfunction may improve our understanding of RPE diseases.

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Abbreviations

AMD:

Age related macular degeneration

Ca2+ :

Calcium

CMZ:

Ciliary marginal zone

H2S:

Hydrogen sulphide

OKR:

Optokinetic response

OS:

Outer segment

RPE:

Retinal pigment epithelium

V-ATPase:

Vacuolar ATPase

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Author information

Authors and Affiliations

  1. School of Biomolecular and Biomedical Science, Conway Institute, University College Dublin, Belfield, Dublin 4, Ireland

    Lisa Shine, Claire Kilty & Breandan Kennedy

  2. Section of Molecular, Cell and Developmental Biology, Institute of Cell and Molecular Biology, University of Texas at Austin, 1 University Station, 78712, Austin, TX, USA

    Jeffrey Gross

Authors
  1. Lisa Shine
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  2. Claire Kilty
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  3. Jeffrey Gross
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  4. Breandan Kennedy
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Corresponding author

Correspondence to Breandan Kennedy .

Editor information

Editors and Affiliations

  1. Department of Ophthalmology, University of Florida, Gainesville, Florida, USA

    John D. Ash

  2. University Hospital Zurich, Zurich, Switzerland

    Christian Grimm

  3. Cole Eye Institute at the Cleveland Clin Division of Ophthalmology, Cleveland, Ohio, USA

    Joe G. Hollyfield

  4. Dean A. McGee Eye Inst., University of Oklahoma Health Science Center, Oklahoma City, Oklahoma, USA

    Robert E. Anderson

  5. Beckman Vision Center, University of California, San Francisco School of Medicine, San Francisco, California, USA

    Matthew M. LaVail

  6. Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA

    Catherine Bowes Rickman

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Shine, L., Kilty, C., Gross, J., Kennedy, B. (2014). Vacuolar ATPases and Their Role in Vision. In: Ash, J., Grimm, C., Hollyfield, J., Anderson, R., LaVail, M., Bowes Rickman, C. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 801. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3209-8_13

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  • DOI: https://doi.org/10.1007/978-1-4614-3209-8_13

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-3208-1

  • Online ISBN: 978-1-4614-3209-8

  • eBook Packages: MedicineMedicine (R0)

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