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Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.

Publication ,  Journal Article
Abd-El-Barr, MM; Sykoudis, K; Andrabi, S; Eichers, ER; Pennesi, ME; Tan, PL; Wilson, JH; Katsanis, N; Lupski, JR; Wu, SM
Published in: Vision Res
December 2007

Bardet-Biedl syndrome (BBS) is an oligogenic syndrome whose manifestations include retinal degeneration, renal abnormalities, obesity and polydactylia. Evidence suggests that the main etiopathophysiology of this syndrome is impaired intraflagellar transport (IFT). In this study, we study the Bbs4-null mouse and investigate photoreceptor structure and function after loss of this gene. We find that Bbs4-null mice have defects in the transport of phototransduction proteins from the inner segments to the outer segments, before signs of cell death. Additionally, we show defects in synaptic transmission from the photoreceptors to secondary neurons of the visual system, demonstrating multiple functions for BBS4 in photoreceptors.

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Published In

Vision Res

DOI

ISSN

0042-6989

Publication Date

December 2007

Volume

47

Issue

27

Start / End Page

3394 / 3407

Location

England

Related Subject Headings

  • Vision, Ocular
  • Synaptic Transmission
  • Rod Opsins
  • Protein Transport
  • Photoreceptor Cells
  • Models, Animal
  • Microtubule-Associated Proteins
  • Microscopy, Electron
  • Mice, Knockout
  • Mice
 

Citation

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Abd-El-Barr, M. M., Sykoudis, K., Andrabi, S., Eichers, E. R., Pennesi, M. E., Tan, P. L., … Wu, S. M. (2007). Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Res, 47(27), 3394–3407. https://doi.org/10.1016/j.visres.2007.09.016
Abd-El-Barr, Muhammad M., Kristen Sykoudis, Sara Andrabi, Erica R. Eichers, Mark E. Pennesi, Perciliz L. Tan, John H. Wilson, Nicholas Katsanis, James R. Lupski, and Samuel M. Wu. “Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.Vision Res 47, no. 27 (December 2007): 3394–3407. https://doi.org/10.1016/j.visres.2007.09.016.
Abd-El-Barr MM, Sykoudis K, Andrabi S, Eichers ER, Pennesi ME, Tan PL, et al. Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Res. 2007 Dec;47(27):3394–407.
Abd-El-Barr, Muhammad M., et al. “Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.Vision Res, vol. 47, no. 27, Dec. 2007, pp. 3394–407. Pubmed, doi:10.1016/j.visres.2007.09.016.
Abd-El-Barr MM, Sykoudis K, Andrabi S, Eichers ER, Pennesi ME, Tan PL, Wilson JH, Katsanis N, Lupski JR, Wu SM. Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome. Vision Res. 2007 Dec;47(27):3394–3407.
Journal cover image

Published In

Vision Res

DOI

ISSN

0042-6989

Publication Date

December 2007

Volume

47

Issue

27

Start / End Page

3394 / 3407

Location

England

Related Subject Headings

  • Vision, Ocular
  • Synaptic Transmission
  • Rod Opsins
  • Protein Transport
  • Photoreceptor Cells
  • Models, Animal
  • Microtubule-Associated Proteins
  • Microscopy, Electron
  • Mice, Knockout
  • Mice