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Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4

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Retinal Degenerative Diseases

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

Abstract

Autosomal dominant Stargardt3 Macular Dystrophy (STGD3) results from mutations in the ELOVL4 gene. ELOVL4 protein localizes to the endoplasmic reticulum (ER), where it mediates the rate-limiting condensation reaction during very long-chain (VLC, ≥  C28) fatty acid biosynthesis. The defective gene product is truncated at the C-terminus, leading to mislocalization and aggregation in other organelles. In this review, we summarize our current understanding of the disease-causing mutation and its potential role in STGD3 pathogenesis.

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Acknowledgment

This work was supported by NIH Grants EY00871, EY04149, EY21725, EY21725 and RR17703; Foundation Fighting Blindness, Inc., and Research to Prevent Blindness, Inc.

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Authors and Affiliations

  1. Department of Cell Biology, University of Oklahoma Health Sciences Center, 608 Stanton L. Young Boulevard, 73104, Oklahoma City, OK, USA

    Sreemathi Logan & Robert E. Anderson

  2. Dean A. McGee Eye Institute, Oklahoma City, OK, USA

    Sreemathi Logan & Robert E. Anderson

  3. Department of Ophthalmology, University of Oklahoma Health Sciences Center, 608 Stanton L. Young Boulevard, 73104, Oklahoma City, OK, USA

    Robert E. Anderson

Authors
  1. Sreemathi Logan
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  2. Robert E. Anderson
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Corresponding author

Correspondence to Robert E. Anderson .

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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Logan, S., Anderson, R. (2014). Dominant Stargardt Macular Dystrophy (STGD3) and ELOVL4. 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_57

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  • DOI: https://doi.org/10.1007/978-1-4614-3209-8_57

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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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